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Gene: Cct5 MGI:107185

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Gene Summary

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

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
preweaning lethality, complete penetrance Cct5em1(IMPC)Tcp HOM   Early adult 0.00
embryonic lethality prior to organogenesis Cct5em1(IMPC)Tcp HOM   E9.5 0.00
embryonic growth retardation Cct5em1(IMPC)Tcp HET E9.5 0.00
abnormal skin morphology Cct5em1(IMPC)Tcp HET Early adult 0.00
abnormal digit morphology Cct5em1(IMPC)Tcp HET   Early adult 4.80×10-05
decreased exploration in new environment Cct5em1(IMPC)Tcp HET Early adult 2.27×10-05
abnormal retina morphology Cct5em1(IMPC)Tcp HET Early adult 7.49×10-05
abnormal embryo size Cct5em1(IMPC)Tcp HET E9.5 0.00
abnormal uterus morphology Cct5em1(IMPC)Tcp HET Early adult 0.00

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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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 Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

3 Images

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Histopathology

Images

5 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
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydactyly, Retinal degeneration, Bra... OMIM:615982
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit... ORPHA:2141
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormality o... ORPHA:3130
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Macular atrophy, Polydactyl... OMIM:615994
Hypomelia With Mullerian Duct Anomalies
Split hand, Uterus didelphys, Longitudinal vaginal septum, Postaxial hand polydactyly OMIM:146160
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short metatarsal, Hy... OMIM:600705
Seckel Syndrome 7
Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia of the uterus, Shor... OMIM:614851
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Long thumb OMIM:619151
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Perrault Syndrome 4
Cubitus valgus, Hypoplasia of the ovary, Cognitive impairment, Hypoplasia of the uterus, Bicornua... OMIM:615300
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Cubitus valgus, Brachydactyly, Hypoplasia o... ORPHA:247768
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, H... OMIM:119500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Depression, Non-obstructive azoospermia, Decreased testicular size, Azoospermi... ORPHA:432
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Meckel Syndrome 14
Postaxial foot polydactyly, Bowing of the long bones, Aplasia of the uterus, Postaxial polydactyl... OMIM:619879
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Optic nerve ... OMIM:617914
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Townes-Brocks Syndrome 1
Broad thumb, Chorioretinal coloboma, Cryptorchidism, Pseudoepiphyses of second metacarpal, Rectop... OMIM:107480
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Gonadal dysgenesis, Cutaneous finger syndactyly, Limited elbow exten... OMIM:618419
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of the uterus, Hip dysplasia,... ORPHA:457284
Hydatidiform Mole
Enlarged uterus ORPHA:99927
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Rod-cone dystrophy, Vaginal atresia ORPHA:2237
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Rocker bottom foot OMIM:616258
Oeis Complex
Congenital hip dislocation, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguou... OMIM:258040
Chromosome 17Q12 Deletion Syndrome
Upper limb undergrowth, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uteru... OMIM:614527
Limb-Mammary Syndrome
Toe syndactyly, Oligodactyly, Aplasia of the ovary, Aplasia of the uterus, Clinodactyly of the 5t... ORPHA:69085
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Abnormal reproductive system morphology, B... ORPHA:1521
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Fanconi Anemia, Complementation Group L
Absent thumb, Aplasia of the uterus, Attention deficit hyperactivity disorder, Absent radius, Mic... OMIM:614083
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia... OMIM:256520
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus, Delayed epiphyseal ossification ORPHA:785
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Hypoplasia of the uterus, Clinodactyly OMIM:615866
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of... ORPHA:284339
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e... ORPHA:90794
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Carpal synostosis, Cryptorchi... OMIM:201750
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Pigmentary retinopathy, Single transverse palmar crease, Ovotestis, Chordee... OMIM:309801
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Wolf-Hirschhorn Syndrome
Precocious puberty, Pseudoepiphyses of the metacarpals, Short thumb, Preaxial hand polydactyly, P... OMIM:194190
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, Talipes equinovaru... OMIM:236680
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism, Irritability, Abnormal vitreous humor morphology,... ORPHA:649
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Prominent fingertip pads, Sandal gap, Short distal phalanx of the 5th toe, ... OMIM:135900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Woodhouse-Sakati Syndrome
Mental deterioration, Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogen... ORPHA:3464
Peters-Plus Syndrome
Square pelvis bone, Cryptorchidism, Limited elbow movement, Hypoplastic labia majora, Short palm,... OMIM:261540
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperextensibility, Cr... OMIM:130050
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uterus, Ambiguous genitalia, Pe... OMIM:618280
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... OMIM:241080
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
Pallister-Killian Syndrome
Small scrotum, Small hand, Postaxial foot polydactyly, Cryptorchidism, Hypoplastic labia majora, ... OMIM:601803
Loeys-Dietz Syndrome
Arachnodactyly, Uterine rupture, Camptodactyly of finger ORPHA:60030
Peters Plus Syndrome
Optic atrophy, Rhizomelia, Toe syndactyly, Short toe, Micromelia, Cryptorchidism, Brachydactyly, ... ORPHA:709
Exstrophy-Epispadias Complex
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... ORPHA:322
Okamoto Syndrome
Bifid uterus, Hip dysplasia, Polydactyly ORPHA:2729
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias OMIM:137920
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Talipes... ORPHA:286
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
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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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
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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