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Gene: Hfm1 MGI:3036246

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
HFM1, ATP-dependent DNA helicase homolog
Synonyms:
LOC381663,  A330009G12Rik,  Mer3,  Sec63d1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Hfm1 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.

The table below shows human diseases associated to Hfm1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724

The table below shows human diseases predicted to be associated to Hfm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:617593
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Testes, Rudimentary
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... OMIM:146110
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Perrault Syndrome 3
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Pri... OMIM:614129
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... ORPHA:752
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Infertility, Micropenis ORPHA:261524
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... ORPHA:754
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Hypogonadism-Cataract Syndrome
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... OMIM:194072
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility ORPHA:1643
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
Spermatogenic Failure 17
Male infertility OMIM:617214
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... OMIM:264300
Ovarian Dysgenesis 3
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... OMIM:614324
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... ORPHA:91
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism, Cryptorchidism ORPHA:110
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... ORPHA:2232
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Primary amenorrhea, Aplasia of the uterus, Elevated circulating follicl... OMIM:273250
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:614858
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... ORPHA:3085
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... ORPHA:247768
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... ORPHA:95619
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... ORPHA:1772
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Incre... ORPHA:8
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... OMIM:110100
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondar... OMIM:268020
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:616030
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... ORPHA:79239
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
46,Xx Sex Reversal 4
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... OMIM:617480
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... ORPHA:1227
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... ORPHA:572333
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Polycystic ovaries, Hyperinsulinemia ORPHA:79084
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... ORPHA:91349
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P... ORPHA:90795
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... ORPHA:457059
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... ORPHA:465508
46,Xy Sex Reversal 8
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism OMIM:614279
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:79085
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Prolactinoma
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... ORPHA:2965
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov... OMIM:604367
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect... ORPHA:435660
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Diabetes mellitus, Polycystic ov... ORPHA:528
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Primary amenorrhea, Precocious puberty, Hypogonadism, External genital hy... ORPHA:398079
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... OMIM:618820
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:435651
Leopard Syndrome 1
Aplasia of the ovary, Hypoplasia of the ovary, Hypospadias, Delayed puberty, Cryptorchidism, Micr... OMIM:151100
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Nephrogenic diabetes insipidus... OMIM:209900
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility ORPHA:85450
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Irregular menstruation, Precocious puberty, Increased circul... ORPHA:562
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98793
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian cyst, Thyroid... OMIM:615109
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hypoplasia of the ovary, Micropenis OMIM:619321
Diphallia
Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi... ORPHA:227
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... OMIM:615108
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Renal Nutcracker Syndrome
Vulval varicose vein, Infertility, Dyspareunia, Varicocele, Dysmenorrhea ORPHA:71273
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Long penis, Pancreatic islet-cell hyperplasia, Ovarian cyst... OMIM:246200
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia ORPHA:90970
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:90695
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian carcinoma, Ov... OMIM:158350
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... ORPHA:91347
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma ORPHA:454840
Ataxia-Telangiectasia
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, Diabetes mellitus, Delay... OMIM:208900
Peutz-Jeghers Syndrome
Uterine neoplasm, Ovarian cyst, Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor OMIM:175200
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Combined Pituitary Hormone Deficiencies, Genetic Forms
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:95494
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99226
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Schinzel-Giedion Syndrome
Central hypothyroidism, Hypospadias, Annular pancreas, Streak ovary, Micropenis ORPHA:798
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligospermia, Diabetes mellitus, Male infertility ORPHA:125
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... OMIM:201750
Noonan Syndrome 1
Hypospadias, Male infertility, Hypogonadism, Cryptorchidism OMIM:163950
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Cystinosis, Nephropathic
Male hypogonadism, Diabetes mellitus, Delayed puberty, Male infertility, Primary hypothyroidism OMIM:219800
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 Hfm1

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 Hfm1.

No publications found that use IMPC mice or data for Hfm1.

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MGI Allele Allele Type Produced
Hfm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hfm1tm46118(L1L2_hubi_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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