Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
centrosomal protein 63
Synonyms:
D9Mgc48e,  CD20R,  D9Mgc41,  ET2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Cep63 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 Cep63 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Seckel Syndrome 6
Microcephaly, Short stature OMIM:614728
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Short stature, Microcephaly, Growth delay, Pachygyria, Agenesis ... ORPHA:2512

The table below shows human diseases predicted to be associated to Cep63 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Microcephaly, Male hypogonadism OMIM:241000
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Ring Chromosome Y Syndrome
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pit... ORPHA:2183
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Maternal Uniparental Disomy Of Chromosome X
Short stature, Microcephaly, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gon... ORPHA:261519
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity OMIM:615703
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia, Leukoencephalopathy, Abnormal motor neuron morphology OMIM:613724
Young Syndrome
Azoospermia OMIM:279000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Growth delay, Hypogonadism OMIM:615234
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Holoprosencephaly, Short stature, Microcephaly, Azoospermia, Diabetes in... ORPHA:1445
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 antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Hydrocephalus, Macr... ORPHA:8
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... ORPHA:280679
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... ORPHA:432
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature ORPHA:2578
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Polyendocrine-Polyneuropathy Syndrome
Short stature, Cerebellar hypoplasia, Hypogonadism, Postnatal growth retardation, Central hypothy... OMIM:616113
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypoplasia of the olfactory bulb, Decreased serum testosterone concentration, Micropenis, Decreas... OMIM:614897
Bone Marrow Failure Syndrome 5
Microcephaly, Testicular atrophy, Short stature, Hypogonadism OMIM:618165
Lissencephaly, X-Linked, 1
Micropenis, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesis of corpus c... OMIM:300067
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:300845
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Ring Chromosome 22 Syndrome
Growth delay, Absent septum pellucidum, Microcephaly, Azoospermia, Agenesis of corpus callosum ORPHA:1446
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Ciliary Dyskinesia, Primary, 40
Infertility, Patent ductus arteriosus, Absent outer dynein arms, Azoospermia OMIM:618300
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
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
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, External genital hypoplasia, Short stature, Microcephaly, Postnatal growth... OMIM:612947
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage, Microcephaly, Small for ge... OMIM:278780
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Short stature OMIM:601076
Fanconi Anemia, Complementation Group A
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Deficient... OMIM:227650
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Holoprosencephaly, Short stature, Ar... ORPHA:96264
8P11.2 Deletion Syndrome
Growth delay, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Abnormality of t... ORPHA:251066
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Infertility, Impotence, Decreased serum testosterone co... ORPHA:2232
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Deficient... OMIM:600901
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Temple Syndrome
Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon... ORPHA:254516
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96263
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Relative macrocephaly, Abnormal external genitalia, Short stature, Small f... ORPHA:231140
Seckel Syndrome 6
Microcephaly, Short stature OMIM:614728
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Small for gestationa... OMIM:227646
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Fanconi Anemia, Complementation Group C
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Deficient... OMIM:227645
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
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
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Growth delay, Abnormality of the hypothalamus-pituitary axis, Hypothyroidi... ORPHA:300298
Bloom Syndrome
Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Small for gestational age,... OMIM:210900
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... OMIM:308750
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Functioning Gonadotropic Adenoma
Hydrocephalus, Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell a... ORPHA:91348
H Syndrome
Amenorrhea, Hydrocephalus, Micropenis, Short stature, Decreased testicular size, Hypogonadism, De... ORPHA:168569
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Short stature, Microcephaly, Deficient excision of UV-induced pyrimidine d... OMIM:278760
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... ORPHA:73272
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Cerebral atrophy, Hypogonadism OMIM:160900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Macrocephaly, Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adr... OMIM:614732
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Baraitser-Winter Syndrome 1
Failure to thrive, Micropenis, Short stature, Pachygyria, Microcephaly, Lissencephaly, Patent duc... OMIM:243310
De Sanctis-Cacchione Syndrome
Severe short stature, Cerebral atrophy, Basal ganglia calcification, Microcephaly, Gonadal hypopl... OMIM:278800
Bloom Syndrome
Abdominal obesity, Growth delay, Small for gestational age, Severe postnatal growth retardation, ... ORPHA:125
Silver-Russell Syndrome Due To A Point Mutation
Relative macrocephaly, Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypot... ORPHA:397590
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty ORPHA:90646
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Postnatal growth retardation, Relative macrocepha... ORPHA:813
Fanconi Anemia
Growth delay, Hydrocephalus, Absent testis, Decreased fertility in males, Bicornuate uterus, Abno... ORPHA:84
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Aromatase Deficiency
Growth delay, Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Eunucho... ORPHA:91
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia, Microcephaly, Defective DNA repair after ultra... OMIM:610965
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Hypergonadotropic hypogonadism... OMIM:602782
Trichothiodystrophy
Cerebral dysmyelination, Cerebral cortical atrophy, Cryptorchidism, Periventricular leukomalacia,... ORPHA:33364
Dyskeratosis Congenita, Autosomal Recessive 2
Cerebral calcification, Growth delay, Testicular atrophy OMIM:613987
Wolfram Syndrome 1
Testicular atrophy, Cerebral atrophy, Hypothyroidism, Diabetes mellitus, Growth delay, Diabetes i... OMIM:222300
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Cervical spina bifida, Male pseudohermaphroditism, Postnatal growth retardation, Ob... OMIM:600122
Warburg Micro Syndrome 2
Micropenis, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Hypoplastic labia ma... OMIM:614225
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Weight loss, Abnormal testis morphology, Primary te... ORPHA:85450
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Mosaic Variegated Aneuploidy Syndrome 1
Cerebral hypoplasia, Hydrocephalus, Bifid scrotum, Micropenis, Hypospadias, Small for gestational... OMIM:257300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Growth delay, Hydrocephalus, Cachexia, Hypoplasia of the corpus callosum, Delayed... ORPHA:2072
Craniopharyngioma
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Hydrocephalus, Central adrenal... ORPHA:54595
Microphthalmia, Syndromic 3
Micropenis, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Microcephaly, Optic nerve ... OMIM:206900
Woodhouse-Sakati Syndrome
Growth delay, Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentrat... ORPHA:3464
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Failure to thrive, Short stature, Hyperaldos... ORPHA:534
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Ataxia-Telangiectasia
Failure to thrive, Short stature, Hypoplasia of the thymus, Microcephaly, Delayed puberty, Abnorm... OMIM:208900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Short stature, Hypospadias, Abnormality of the Leydig cells, Megalencephaly, ... ORPHA:3063
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Communicating hydrocephalus OMIM:244400
Diphallia
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Ectopic scrotum, ... ORPHA:227
Primary Ciliary Dyskinesia
Hydrocephalus, Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Xeroderma Pigmentosum, Complementation Group A
Microcephaly, Defective DNA repair after ultraviolet radiation damage OMIM:278700
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Short stature, Microcephaly, Growth delay, Pachygyria, Agenesis ... ORPHA:2512
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Xeroderma Pigmentosum, Complementation Group D
Microcephaly, Defective DNA repair after ultraviolet radiation damage OMIM:278730
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Cerebral atrophy, Short stature, Cerebral calcification, Failu... OMIM:219800
Noonan Syndrome 1
Short stature, Hypospadias, Male infertility, Patent ductus arteriosus, Hypogonadism, Postnatal g... OMIM:163950
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Cystic Fibrosis
Failure to thrive, Exocrine pancreatic insufficiency, Male infertility, Pancreatitis 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 Cep63

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 Cep63.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cep63 and cep152 cooperate to ensure centriole duplication. PloS one (July 2013) Cep63tm2a(EUCOMM)Wtsi PMC3728344

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MGI Allele Allele Type Produced
Cep63tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cep63tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cep63tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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