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Gene: Cfap119 MGI:2685012

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Gene Summary

Name:
cilia and flagella associated protein 119
Synonyms:
LOC233899,  Ccdc189,  Gm166

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
male infertility Cfap119tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased vertical activity Cfap119tm1b(EUCOMM)Hmgu HOM   Early adult 7.06×10-05
increased circulating HDL cholesterol level Cfap119tm1b(EUCOMM)Hmgu HOM Early adult 2.78×10-08
decreased locomotor activity Cfap119tm1b(EUCOMM)Hmgu HOM Early adult 2.25×10-05
increased circulating cholesterol level Cfap119tm1b(EUCOMM)Hmgu HOM Early adult 7.81×10-09

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Viewing: all phenotypes

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

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Cfap119 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 Cfap119 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
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
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
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spermatogenic Failure 17
Male infertility OMIM:617214
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea OMIM:301033
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu... OMIM:277460
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo... OMIM:208920
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Lipodystrophy, Congenital Generalized, Type 3
Primary amenorrhea, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve... ORPHA:330015
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility OMIM:613808
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... ORPHA:64753
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Delayed menarche, Hyperlipidemia, Acute... ORPHA:247585
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Premature ovarian insufficiency, H... ORPHA:79237
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Cog4-Cdg
Hypercholesterolemia, Ataxia ORPHA:263501
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty... ORPHA:91
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Generalized Lipodystrophy
Amenorrhea, Oligomenorrhea, Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab... ORPHA:251066
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Smith-Magenis Syndrome
Gait disturbance, Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Elevated circulating creatine kinase concentration, Hyperch... ORPHA:79240
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Neuhauser Syndrome
Hypercholesterolemia, Ataxia OMIM:249310
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia, Hypercho... ORPHA:90674
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Elevated circulating creatine kinase concentration, Hyperch... ORPHA:264580
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst... ORPHA:228123
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Bloom Syndrome
Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism OMIM:210900
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Prader-Willi Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Hyp... OMIM:176270
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Tetrasomy 9P
Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infe... ORPHA:3310
Bardet-Biedl Syndrome 20
Male hypogonadism, Hypercholesterolemia OMIM:619471
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertr... ORPHA:79259
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Steinert Myotonic Dystrophy
Male hypogonadism, Falls, Inability to walk, Decreased fertility, Gait disturbance, Hypercholeste... ORPHA:273
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Dysmetria, Hypercholesterolemia, Hypertriglyceridemia, Dysdiadochokinesis OMIM:606721
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Azoospermia, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemi... ORPHA:534
Cystic Fibrosis
Male infertility OMIM:219700
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Cystinosis, Nephropathic
Male hypogonadism, Primary hypothyroidism, Delayed puberty, Diabetes mellitus, Male infertility OMIM:219800
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ... ORPHA:64
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Noonan Syndrome 1
Hypogonadism, Hypospadias, Cryptorchidism, Male infertility OMIM:163950
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Cfap119

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 Cfap119.

No publications found that use IMPC mice or data for Cfap119.

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
Cfap119tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Cfap119tm83893(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cfap119tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cfap119tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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