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Gene: Dazap1 MGI:1917498

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Gene Summary

Name:
DAZ associated protein 1
Synonyms:
2410042M16Rik,  mPrrp

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Dazap1em1(IMPC)Ccpcz HET Early adult 0.00
increased eosinophil cell number Dazap1em1(IMPC)Ccpcz HET Early adult 1.41×10-07
increased lean body mass Dazap1em1(IMPC)Ccpcz HET Early adult 8.96×10-10
decreased locomotor activity Dazap1em1(IMPC)Ccpcz HET   Early adult 5.83×10-05
preweaning lethality, incomplete penetrance Dazap1em1(IMPC)Ccpcz HOM   Early adult 0.00
increased anxiety-related response Dazap1em1(IMPC)Ccpcz HET   Early adult 4.18×10-05
abnormal caudal vertebrae morphology Dazap1em1(IMPC)Ccpcz HET   Early adult 4.55×10-05
enlarged heart Dazap1em1(IMPC)Ccpcz HET Early adult 0.00
decreased total body fat amount Dazap1em1(IMPC)Ccpcz HET Early adult 8.88×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Dazap1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dazap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Eosinophilia, Familial
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia OMIM:131400
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy... OMIM:607685
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... ORPHA:168563
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... OMIM:614840
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating... OMIM:619665
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Spermatogenic Failure 17
Male infertility OMIM:617214
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... ORPHA:1916
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating antimullerian ho... OMIM:619203
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Ethanolaminosis
Cardiomegaly OMIM:227150
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Delayed puberty, Testicular... ORPHA:52901
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... OMIM:616950
Loeffler Endocarditis
Left atrial enlargement, Left ventricular hypertrophy, Abnormal tricuspid chordae tendinae morpho... ORPHA:75566
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Weight loss ORPHA:517
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Decrea... ORPHA:243
Immunodeficiency 88
Eosinophilia OMIM:619630
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Gonadoblastoma
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:206484
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of... ORPHA:754
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:66628
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... OMIM:194072
Frasier Syndrome
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... ORPHA:347
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:179494
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Anxiety, Unsteady gait, Eosinophilia OMIM:618092
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Secondary amenorrhea, Hypogonadotropic hypogonadism ORPHA:1643
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... ORPHA:3130
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Irregular vertebral endplates, Hepatomeg... OMIM:616651
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Decreased fertil... ORPHA:2235
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Thoracolumbar scoliosis, Scoliosis, Joint contracture of the hand, Eosinophilia OMIM:618523
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... ORPHA:314478
Eosinophilic Fasciitis
Eosinophilia, Cellulitis, Fasciitis, Abnormal eosinophil morphology, Weight loss ORPHA:3165
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Failure to thrive, Eosinophilia, Thrombocytopenia... OMIM:226990
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... ORPHA:99429
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... ORPHA:2975
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea ORPHA:2795
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... ORPHA:2232
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Difficulty walking, Eosinophilia OMIM:253600
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:110
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Biconvex vertebral bodies, Hip co... ORPHA:353298
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Leydig Cell Hypoplasia
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Ne... OMIM:615387
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia, Male infertility OMIM:277180
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Abnormal circulating hormone c... ORPHA:280356
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... OMIM:273250
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Scoliosis, Cutaneous abscess, Eosinophilia OMIM:147060
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... ORPHA:3085
Wells Syndrome
Cellulitis, Eosinophilia ORPHA:901
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pulmonic stenosis, Atrial septal defect, Eosinophilia, Spinal canal stenosis, Cutaneous abscess, ... OMIM:618282
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... ORPHA:752
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... OMIM:614837
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Esophagitis, Eosinophilic, 1
Eosinophilia, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Failure to thrive OMIM:613412
Kimura Disease
Eosinophilia ORPHA:482
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Polycystic Ovary Syndrome 1
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea OMIM:184700
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Primary amenorrhea, Abnormality of the ovary, Hypoplasia of t... ORPHA:247768
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:613546
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... ORPHA:486
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Eosinophilopenia
Decreased eosinophil count OMIM:131430
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... ORPHA:8
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... ORPHA:3464
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia OMIM:607115
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Omenn Syndrome
Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Failure to thrive, Eosinophil... ORPHA:39041
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Atrial septal defect, Anemia, Perimembranous ventricular septal defect... OMIM:620135
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Failure to thrive, Eosi... OMIM:603554
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Acute myeloid leukemia, Myeloid leukemia, Chronic myel... ORPHA:98849
Uruguay Faciocardiomusculoskeletal Syndrome
Camptodactyly of toe, Scoliosis, Camptodactyly, Left atrial enlargement, Left ventricular hypertr... OMIM:300280
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia, Failure to thrive OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Failure to thrive secondary to ... ORPHA:169160
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,... ORPHA:79239
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Cystic Echinococcosis
Abnormality of the vertebral column, Abscess, Hepatomegaly, Abnormal heart morphology, Eosinophil... ORPHA:400
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Lumbar hyperlordosis, Cervical instability, Inability to walk, Severe platyspo... ORPHA:508533
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Umbilical hernia, Lymphopenia, Decrea... OMIM:617237
Aromatase Deficiency
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d... ORPHA:91
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Failure to thrive, Eosinophilia, Thrombocytopen... OMIM:304790
Immunodeficiency 23
Scoliosis, Hemolytic anemia, Ataxia, Abscess, Lymphopenia, Failure to thrive, Eosinophilia, Neutr... OMIM:615816
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Gait disturbance, Endocarditis, Eosinophilia, Hypertrophic cardiomyopathy, Abnormal ... ORPHA:183
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Failure to thrive, Eosinophilia, B lymphocytope... OMIM:602450
Alveolar Echinococcosis
Low back pain, Liver abscess, Ataxia, Abnormal spleen morphology, Anemia, Eosinophilia, Cutaneous... ORPHA:284
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Cervical instability, Lymphopenia, Eosinophilia, Platyspondyly, Kyphoscoliosis, Thoracolumbar kyp... OMIM:617425
Ovarian Dysgenesis 3
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... OMIM:614324
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Severe B lymphocytopenia... OMIM:102700
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia, Weight loss ORPHA:2070
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:617388
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Failure to thrive, ... ORPHA:911
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Ataxia, Decre... ORPHA:443811
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Cantu Syndrome
Ovoid vertebral bodies, Short neck, Umbilical hernia, Platyspondyly, Bicuspid aortic valve, Conge... OMIM:239850
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Congenital Myopathy 8
Cardiomegaly, Scoliosis OMIM:618654
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Cardiomegaly, Lethargy, Hepatomegaly OMIM:619064
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Kyphoscoliosis OMIM:300886
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Igg4-Related Aortitis
Hypereosinophilia, Low back pain, Weight loss ORPHA:449400
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Aggressive behavior, Splenomegaly, Ovo... OMIM:252920
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Aspergillosis
Abnormality of the vertebral column, Neutropenia, Eosinophilia ORPHA:1163
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... ORPHA:572333
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Abnormal calcium-phosphate regulating ... ORPHA:457059
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Failure to thrive, Thrombocytopenia, Pancytopenia ORPHA:90045
Scleroderma
Myocarditis, Hypereosinophilia, Interstitial cardiac fibrosis, Anxiety, Depression, Flexion contr... ORPHA:801
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased circulating androstenedione concentration, Increased ser... ORPHA:90795
Congenital Toxoplasmosis
Anemia, Failure to thrive in infancy, Hepatomegaly, Thrombocytopenia, Cardiomegaly ORPHA:858
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Neuraminidase Deficiency
Vacuolated lymphocytes, Inguinal hernia, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Ca... OMIM:256550
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis, Weight loss ORPHA:139402
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Cardiomyopathy, Gait ataxia, Cardiomegaly, ... OMIM:619259
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr... ORPHA:465508
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Lethargy, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Autosomal Dominant Hyper-Ige Syndrome
Scoliosis, Cellulitis, Eosinophilia ORPHA:2314
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... ORPHA:79085
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Weight loss ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia OMIM:613576
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Kyp... ORPHA:324410
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly OMIM:269920
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Small for gestational age, Abnormal ventriculoarterial conne... ORPHA:860
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Fucosidosis
Spastic gait, Vacuolated lymphocytes, Scoliosis, Lumbar hyperlordosis, Hepatomegaly, Cervical pla... OMIM:230000
Attrv122I Amyloidosis
Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Spinal canal stenosis, Restrictive car... ORPHA:85451
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hepatomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Letha... OMIM:212140
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... ORPHA:3261
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... OMIM:305400
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Netherton Syndrome
Hypereosinophilia, Failure to thrive OMIM:256500
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms OMIM:614874
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Failure to thrive, Eosinophilia, Lethargy, Weight loss ORPHA:199299
Leopard Syndrome 1
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Delayed menarche, Aplasia o... OMIM:151100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Micropenis, Clitoral hypertrophy, Urogenital sinus anomaly, Streak ovary, Uterus ... OMIM:618820
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Abnormal labia majora morphology, Dec... ORPHA:435660
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... ORPHA:435651
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Truncal ataxia OMIM:619051
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Distal arthrogryposis, Hepatomegaly, Cachexia, Cardiomegaly, Lethargy ORPHA:42
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Fucosidosis
Lipoatrophy, Hepatomegaly, Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae, Car... ORPHA:349
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Incontinentia Pigmenti
Camptodactyly of finger, Scoliosis, Gait disturbance, Umbilical hernia, Eosinophilia, Spina bifid... ORPHA:464
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, Fused l... ORPHA:95699
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Failure to thrive, Pericardial effusion, Hypertrophic cardiomyopathy, ... OMIM:614702
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Atretic vas ... OMIM:137920
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cellulitis, Cyclic n... ORPHA:2686
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Myeloproliferative disorder, Leukocytosis, Anemia, Myocardial eosinophilic in... ORPHA:3260
Incontinentia Pigmenti
Leukocytosis, Eosinophilia, Hemivertebrae, Scarring, Kyphoscoliosis OMIM:308300
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Bardet-Biedl Syndrome 1
Decreased testicular size, Micropenis, Hypogonadism, Abnormality of the ovary, Diabetes mellitus,... OMIM:209900
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia ORPHA:85450
Mulibrey Nanism
Hepatomegaly, Enamel hypoplasia, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse,... ORPHA:555874
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Tetralogy of Fallot, Atrial septal defect, Atrioventricular can... OMIM:274000
Mccune-Albright Syndrome
Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas... ORPHA:562
46,Xx Sex Reversal 2
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... OMIM:278850
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Scoliosis ORPHA:3137
Coccidioidomycosis
Abnormality of the vertebral column, Abscess, Granuloma, Eosinophilia, Abnormality of the spleen,... ORPHA:228123
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Short neck, Severe platyspondyly, Cardiomegaly, Dysplastic sacrum OMIM:613320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Short neck, Platyspondyly, Hypertrophic car... OMIM:616897
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Umbilical hernia, Abnormal heart valve morphology, Platyspond... ORPHA:1517
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Micropenis OMIM:619321
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... OMIM:306955
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:618652
Beck-Fahrner Syndrome
Cardiomegaly, Depression, Anxiety, Ventricular septal defect OMIM:618798
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Lethargy, Hepatomegaly OMIM:255120
Developmental And Epileptic Encephalopathy 95
Scoliosis, Inability to walk, Gait disturbance, Ataxia, Inguinal hernia, Arthrogryposis multiplex... OMIM:618143
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... ORPHA:75565
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papillary cystadenoma of the epididymi... OMIM:193300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Spinal rigidity, Cardiomegaly, Hy... ORPHA:268
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Ataxia, Cardiomyopathy, Anxiety, Cardiomegaly, Truncal ataxia OMIM:105210
Igg4-Related Pachymeningitis
Abnormality of the cervical spine, Low back pain, Eosinophilia ORPHA:449427
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Ataxia OMIM:266500
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... OMIM:115197
Cushing Disease
Emotional lability, Dorsocervical fat pad, Leukocytosis, Suicidal ideation, Truncal obesity, Lymp... ORPHA:96253
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Apathy, Anemia, Hepatomegaly, Thrombocytopenia, Akinesia, Arthrogryposis mult... OMIM:608013
Diphallia
Rectoperineal fistula, Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Bifid ... ORPHA:227
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Hsd10 Disease, Infantile Type
Cardiomegaly, Loss of ambulation, Choreoathetosis, Hypertrophic cardiomyopathy ORPHA:391428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Lethargy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Craniofaciofrontodigital Syndrome
Scoliosis, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicu... ORPHA:363705
Familial Adenomatous Polyposis 4
Ovarian cyst, Thyroid adenoma, Uterine leiomyoma OMIM:617100
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... ORPHA:2041
Pseudo-Torch Syndrome 3
Cardiomegaly, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Carney Complex
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... ORPHA:1359
Complete Atrioventricular Septal Defect
Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... ORPHA:1329
Alg9-Cdg
Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus ORPHA:79328
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Ventricular septal defect, Short neck, Omphalocele, Overriding aorta, T... OMIM:617022
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Leukocytosis, Reticulocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect OMIM:601005
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Increased circulating gonadotropin level, Enlar... ORPHA:64739
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... OMIM:301000
Sickle Cell Disease
Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Cardiomegaly, Spl... OMIM:603903
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Pancytopenia, Cardiomegaly, Mitral stenos... OMIM:231005
Mucolipidosis Ii Alpha/Beta
Camptodactyly, Inguinal hernia, Enlarged kidney, Ovoid vertebral bodies, Lumbar scoliosis, Umbili... OMIM:252500
Mucopolysaccharidosis Type 3
Scoliosis, Gait disturbance, Inguinal hernia, Ataxia, Umbilical hernia, Abnormal mitral valve mor... ORPHA:581
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Viss Syndrome
Hypereosinophilia, Scoliosis, Butterfly vertebrae, Inguinal hernia, Ventricular septal defect, At... OMIM:619472
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Inguinal hernia, Atrial septal defect, Short neck, Left ventricular hypertrophy, Platy... OMIM:245600
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Left ventricular noncompaction cardiomyopathy, Slender build, Ataxia, Atrial septal de... OMIM:300967
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm of the pancreas, P... ORPHA:892
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Loss of truncal subcutaneous adipose tissue, Cardiomegaly, Eunuchoid habitus ORPHA:2463
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... ORPHA:1457
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Thrombocyto... ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy OMIM:617713
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Camptodactyly, Pulmonic stenosis, Atrial septal defe... OMIM:602782
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ataxia OMIM:268800
Abetalipoproteinemia
Reticulocytosis, Ataxia, Anemia, Steppage gait, Hepatomegaly, Acanthocytosis, Failure to thrive, ... ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Inability to walk, Atrial septal defect, Ventricular septal defect... OMIM:620066
Sarcoidosis
Leukopenia, Hemolytic anemia, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Scarring, Inc... ORPHA:797
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Knee flexion contracture, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Le... OMIM:608836
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma ORPHA:454840
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... ORPHA:273
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Enlarged kidney, Weight loss ORPHA:449395
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Scoliosis, Difficulty walking, Chronic lymphatic leukemia, Lipoatrophy, Neona... ORPHA:51
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Cushing Syndrome Due To Ectopic Acth Secretion
Emotional lability, Dorsocervical fat pad, Leukocytosis, Suicidal ideation, Truncal obesity, Anxi... ORPHA:99889
Schinzel-Giedion Syndrome
Micropenis, Central hypothyroidism, Streak ovary, Annular pancreas, Hypospadias ORPHA:798
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Cirrhotic Cardiomyopathy
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... ORPHA:57777
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Ambiguous genitalia, Primary amenorrh... OMIM:201750
Bloom Syndrome
Premature ovarian insufficiency, Diabetes mellitus, Azoospermia, Male infertility, Oligospermia ORPHA:125
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... OMIM:300257
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Inability to walk, Difficulty walking, Left ventricular hypertrophy, Hepatomegaly, Fai... ORPHA:365
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Cardi... ORPHA:308552
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99226
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Inability to walk, Cardiomegaly, Congenital contracture, Hap... ORPHA:97297
Floating-Harbor Syndrome
Cryptorchidism, Varicocele, Glandular hypospadias, Epididymal cyst, Hypospadias OMIM:136140
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... OMIM:601214
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly, Difficulty walking OMIM:232300
Ogden Syndrome
Secundum atrial septal defect, Scoliosis, Inguinal hernia, Polycythemia, Left atrial enlargement,... OMIM:300855
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy... OMIM:261740
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly ORPHA:158687
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Inguinal hernia, Scoliosis, Abnormality of connective tissue, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Hepatomegaly, Histiocytosis, Depression, Splenomegaly, Abnormal eosinophil mo... ORPHA:171
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Hemolytic anemia, Anemia, Lymphopenia, Microcytic anemia, Chronic leuke... ORPHA:906
Floating-Harbor Syndrome
Cryptorchidism, Varicocele, Epididymal cyst, Hypospadias, Precocious puberty ORPHA:2044
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Lipodystrophy, Adipose tissue loss, Flexion contracture of toe, Hepatome... OMIM:256040
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Dermatomyositis
Myocarditis, Chondrocalcinosis, Cellulitis, Pericarditis, Abnormal eosinophil morphology, Weight ... ORPHA:221
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hepatomegaly, Failure to thrive, Cardiomegaly, Lethargy ORPHA:137675
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly ORPHA:228308
Williams Syndrome
Scoliosis, Inguinal hernia, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect,... ORPHA:904
Noonan Syndrome 1
Cryptorchidism, Male infertility, Hypogonadism, Hypospadias OMIM:163950
Truncus Arteriosus
Hypoplasia of the thymus, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricul... ORPHA:3384
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... ORPHA:980
Liver Disease, Severe Congenital
Inguinal hernia, Leukopenia, Left atrial enlargement, Atrial septal defect, Ventricular septal de... OMIM:619991
Cystinosis, Nephropathic
Delayed puberty, Diabetes mellitus, Male infertility, Primary hypothyroidism, Male hypogonadism OMIM:219800
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Beckwith-Wiedemann Syndrome
Inguinal hernia, Polycythemia, Enlarged kidney, Umbilical hernia, Hepatomegaly, Splenomegaly, Omp... ORPHA:116
Beckwith-Wiedemann Syndrome
Enlarged kidney, Cardiomyopathy, Hepatomegaly, Omphalocele, Cardiomegaly, Pancreatic hyperplasia OMIM:130650
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... ORPHA:99125
Singleton-Merten Syndrome 1
Scoliosis, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Waddli... OMIM:182250
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Cardiomyopathy, Severe fail... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Irritability, Ventricular hypertrophy, Pericardial effusion, Fused ... ORPHA:51608
Cystic Fibrosis
Male infertility OMIM:219700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dazap1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dazap1.

No publications found that use IMPC mice or data for Dazap1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dazap1em1(IMPC)Ccpcz Inter-exon deletion Mice
Dazap1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dazap1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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