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Gene: Cct5 MGI:107185

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Gene Summary

Name:
chaperonin containing TCP1 subunit 5
Synonyms:
TCPE,  Ccte

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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
abnormal skin morphology Cct5em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Cct5em1(IMPC)Tcp HOM   E9.5 0.00
preweaning lethality, complete penetrance Cct5em1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Cct5em1(IMPC)Tcp HET E9.5 0.00
embryonic growth retardation Cct5em1(IMPC)Tcp HET E9.5 0.00
abnormal uterus morphology Cct5em1(IMPC)Tcp HET Early adult 0.00
abnormal digit morphology Cct5em1(IMPC)Tcp HET   Early adult 5.52×10-05

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

94 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

16 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

5 Images

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Electrocardiogram (ECG)

Waveform Image

3 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Cct5 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 Cct5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
OMIM:256840
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
ORPHA:139578

The table below shows human diseases predicted to be associated to Cct5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... ORPHA:1319
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... OMIM:609441
Camptobrachydactyly
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... OMIM:114150
Satoyoshi Syndrome
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... ORPHA:3130
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... ORPHA:2975
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Satoyoshi Syndrome
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... OMIM:600705
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Seckel Syndrome 7
Abnormal carpal morphology, Madelung deformity, Hypoplasia of the uterus, Hip dysplasia, Clinodac... OMIM:614851
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Cr... ORPHA:2879
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Cubitus valgus, Abnormal vagina morphology, Abnormality of the ovary, B... ORPHA:247768
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... OMIM:276820
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb OMIM:619151
Perrault Syndrome 4
Hypoplasia of the uterus, Cubitus valgus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u... OMIM:107480
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia, Rocker bottom foot OMIM:616258
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Oeis Complex
Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female... OMIM:258040
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Myoectodermal Gonadal Dysgenesis Syndrome
Single transverse palmar crease, Bifid distal phalanx of the thumb, Broad palm, Hypoplasia of the... OMIM:618419
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Bifid uterus, Abnormal reproductive system morphology, Unilateral brachydactyly, Apla... ORPHA:1521
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagina, Aplasia of the uterus,... ORPHA:457284
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Aplasia of the uterus, Aplasia of th... ORPHA:69085
Chromosome 17Q12 Deletion Syndrome
Long toe, Long fingers, Cryptorchidism, Upper limb undergrowth, Short foot, Ovarian cyst, Aplasia... OMIM:614527
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Bifid uterus, Long fingers, Cr... OMIM:256520
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Clinodactyly, Short distal phalanx of finger OMIM:615866
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali... ORPHA:90794
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Bilateral talipes equinovarus, Aplasia of the uterus, Micropenis OMIM:614083
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Delayed epiphyseal ossification, Hypoplasia of the uterus ORPHA:785
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp... OMIM:201750
Wolf-Hirschhorn Syndrome
Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux, Hypospadias, M... OMIM:194190
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Coffin-Siris Syndrome 1
Sandal gap, Single transverse palmar crease, Hypospadias, Aplasia/Hypoplasia of the patella, Apla... OMIM:135900
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ... OMIM:130050
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Single transverse palmar crease, Ovotestis, Hypoplasia of the uterus, Chordee, Micro... OMIM:309801
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uter... OMIM:618280
Peters-Plus Syndrome
Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow movement, Proximal place... OMIM:261540
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... ORPHA:3464
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Uterine rupture ORPHA:60030
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Pallister-Killian Syndrome
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Camptodactyly of 2nd-... OMIM:601803
Okamoto Syndrome
Hip dysplasia, Polydactyly, Bifid uterus ORPHA:2729
Peters Plus Syndrome
Toe syndactyly, Rhizomelia, Hypospadias, Micromelia, Cryptorchidism, Short toe, Short foot, Hypop... ORPHA:709
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Hypospadias, Cryptorchidism, Cystocele, Talipes equinovarus, Uterine ... ORPHA:286
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
OMIM:256840
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
ORPHA:139578

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 Cct5

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 Cct5.

No publications found that use IMPC mice or data for Cct5.

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MGI Allele Allele Type Produced
Cct5em1(IMPC)Tcp Exon Deletion Mice
Cct5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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