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Gene: Cfap61 MGI:1926024

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Gene Summary

Name:
cilia and flagella associated protein 61
Synonyms:
4930529M08Rik

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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
decreased bone mineral content Cfap61tm2a(EUCOMM)Wtsi HOM Early adult 8.22×10-05
increased blood urea nitrogen level Cfap61tm2a(EUCOMM)Wtsi HOM Early adult 2.18×10-05
male infertility Cfap61tm2a(EUCOMM)Wtsi HOM Early adult 0.00

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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 Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Cfap61tm2a(EUCOMM)Wtsi
HOM, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
HOM, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
HOM, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
HOM, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 83 images

Cfap61tm2a(EUCOMM)Wtsi
WT, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
WT, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
WT, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
WT, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
decreased striatum area, caudate-putamen, HOM, Male, WTSI

View all 15 images

Cfap61tm2a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Cfap61tm2a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Cfap61tm2a(EUCOMM)Wtsi
abnormal tail morphology, HOM, Female, WTSI

Human diseases caused by Cfap61 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 Cfap61 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
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 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 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
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 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 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
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, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
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 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
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 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
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 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 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
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 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 Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
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
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 17
Male infertility OMIM:617214
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa OMIM:620103
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
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, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... ORPHA:399805
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia OMIM:615703
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... ORPHA:52901
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Elevated circulating luteinizing hormone level, Non-... OMIM:618086
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Spermatogenic Failure 14
Male infertility, Azoospermia, Late spermatogenesis maturation arrest OMIM:615842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Primary amenorrhea OMIM:229070
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating creatinine co... OMIM:617872
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Hypogonadism-Cataract Syndrome
Male hypogonadism, Infertility, Hypogonadism OMIM:240950
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
47,Xyy Syndrome
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Male infertility, Varicocele, Cryptorchid... ORPHA:8
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... OMIM:614837
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Pituitary hypothyroidism, Decreased response to growth hormone stim... ORPHA:91348
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Azoospermia, Male hypo... OMIM:228300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis OMIM:614897
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Anterior hypopituitarism, Hyperpitui... ORPHA:91351
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... ORPHA:754
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... ORPHA:261519
Lead Poisoning
Decreased female libido, Infertility, Abnormality of the menstrual cycle, Reduced sperm motility,... ORPHA:330015
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Reduced sperm motility, Infertility OMIM:615444
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... OMIM:400045
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea ORPHA:1445
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Infertility, Oligospermia, Female pseudohermaphroditism,... ORPHA:786
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism ORPHA:280679
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Retrograde ejaculation OMIM:223360
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... ORPHA:251510
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Azoospermia, Testicular atrophy, Cryptorchidism, Hypogonadotropic hypo... OMIM:308700
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism OMIM:300845
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility ORPHA:85450
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Hypogonadotropic hypogonadism, Amenorrhea OMIM:235200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility ORPHA:2239
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism ORPHA:2067
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti... ORPHA:99429
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating creatinine co... OMIM:154230
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Retrograde ejaculation ORPHA:230
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia ORPHA:251004
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... ORPHA:79239
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased testicular size, Decreased fertility in males, Ambiguous g... ORPHA:90791
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Igg4-Related Retroperitoneal Fibrosis
Impotence, Retrograde ejaculation, Increased blood urea nitrogen, Elevated circulating C-reactive... ORPHA:49041
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Ovot... ORPHA:1772
Bloom Syndrome
Premature ovarian insufficiency, Oligospermia, Male infertility, Azoospermia ORPHA:125
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Female in... ORPHA:91
Cockayne Syndrome Type 1
Male hypogonadism, Increased blood urea nitrogen ORPHA:90321
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased fertility, Primary amenorrhea, Ambiguous genitalia, Abnormality of female external geni... ORPHA:95699
Carney Complex
Leydig cell neoplasia, Macroorchidism, Precocious puberty, Abnormal sperm motility, Increased cir... ORPHA:1359
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididymal cyst, Hypospadias, Ex... OMIM:137920
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Tetrasomy 9P
Infertility, Lissencephaly, Oligospermia, Pachygyria, Cryptorchidism, Micropenis, Polymicrogyria ORPHA:3310
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Impotence, Unconjugated hyperbilirubinemia, Decreased serum iron, Incr... ORPHA:447
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Cystic Fibrosis
Exocrine pancreatic insufficiency, Male infertility, Pancreatitis OMIM:219700
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Cystinosis, Nephropathic
Hypohidrosis, Male hypogonadism, Male infertility, Exocrine pancreatic insufficiency, Primary hyp... OMIM:219800
Noonan Syndrome 1
Hypospadias, Male infertility, Hypogonadism, Cryptorchidism OMIM:163950
Alström Syndrome
Irregular menstruation, Precocious puberty in females, Hyoplasia of the Leydig cells, Decreased t... ORPHA:64

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 Cfap61

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 Cfap61.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cfap61tm2a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Cfap61tm2a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cfap61tm2a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)