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Gene: Cep164 MGI:2384878

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Gene Summary

Name:
centrosomal protein 164
Synonyms:
N/A

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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
preweaning lethality, complete penetrance Cep164tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Not available
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Wholemount

22 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
OPT E9.5

Embryo reconstruction

7 Images

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Embryo LacZ

LacZ images wholemount

4 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Cep164 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 Cep164 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 15
OMIM:614845
Senior-Loken Syndrome
ORPHA:3156

The table below shows human diseases predicted to be associated to Cep164 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... OMIM:609637
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Polyhydramnios OMIM:617967
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Holoprosencephaly OMIM:300706
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Thanatophoric Dysplasia Type 2
Encephalocele, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased nuchal transluc... ORPHA:93274
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Ring Chromosome 21 Syndrome
Azoospermia, Holoprosencephaly, Abnormal heart morphology ORPHA:1445
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Distal Deletion 13Q
Encephalocele, Abnormal cardiac septum morphology, Anencephaly, Holoprosencephaly ORPHA:1590
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Triploidy
Polyhydramnios, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, H... ORPHA:3376
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Holoprosencephaly, Polyhydramnios, Situs inversus totalis OMIM:202650
Lambotte Syndrome
Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencep... ORPHA:77298
Distal Monosomy 7Q36
Cryptorchidism, Holoprosencephaly ORPHA:1636
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly ORPHA:2117
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly ORPHA:2570
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Decreased testicular size, Alobar holoprosencephaly OMIM:615433
Monosomy 18P
Holoprosencephaly, Lymphedema ORPHA:1598
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... OMIM:264480
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Holoprosencephaly, Polyhydramnios ORPHA:990
Microtia-Anotia
Holoprosencephaly OMIM:600674
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... OMIM:253800
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Edema, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Anence... OMIM:269860
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Holoprosencephaly ORPHA:250999
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Holoprosencephaly OMIM:612530
Meckel Syndrome 14
Occipital encephalocele, Increased nuchal translucency, Single ventricle, Holoprosencephaly, Olig... OMIM:619879
Microtia
Holoprosencephaly ORPHA:83463
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly ORPHA:2165
16P13.11 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Holoprosencephaly ORPHA:261236
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology,... ORPHA:2166
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... ORPHA:63259
49,Xxxxy Syndrome
Decreased testicular size, Cryptorchidism, Azoospermia, Holoprosencephaly ORPHA:96264
Trisomy 18
Ventricular septal defect, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Atrial s... ORPHA:3380
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly ORPHA:2163
Microform Holoprosencephaly
Tetralogy of Fallot, Holoprosencephaly ORPHA:280200
Solitary Median Maxillary Central Incisor
Holoprosencephaly OMIM:147250
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchidism, Hy... ORPHA:2162
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Polyhydramnios OMIM:612651
Pallister-Hall Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Holoprosencephaly, Neonatal ... OMIM:146510
Steinfeld Syndrome
Holoprosencephaly, Abnormal heart morphology OMIM:184705
Jacobsen Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect OMIM:147791
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Lobar holoprosencephaly OMIM:614701
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2356
Isolated Exencephaly
Holoprosencephaly, Polyhydramnios ORPHA:563612
Halperin-Birk Syndrome
Umbilical hernia, Perimembranous ventricular septal defect, Semilobar holoprosencephaly OMIM:618651
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Increased nuchal translucency, Holoprosencephaly, Subvalvular aortic stenosis, At... ORPHA:1052
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h... OMIM:301043
Pancreatic Agenesis-Holoprosencephaly Syndrome
Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Cryptorchidism, Holoprosencephaly, Umbilical hernia, Patent foramen ovale OMIM:613884
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Increased nu... ORPHA:818
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Overriding aorta, Tetralogy of Fallot ORPHA:3186
Meckel Syndrome
Encephalocele, Situs inversus totalis, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holopros... ORPHA:564
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Charge Syndrome
Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac s... ORPHA:138
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencep... OMIM:270400
Hartsfield Syndrome
Cryptorchidism, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly OMIM:615465
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Neonatal death, Semilobar holoprosencephaly, Lobar holoprosencephaly OMIM:618500
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hol... OMIM:615948
Holoprosencephaly 2
Semilobar holoprosencephaly, Alobar holoprosencephaly, Holoprosencephaly, Single ventricle OMIM:157170
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:610829
Ring Chromosome 7 Syndrome
Situs inversus totalis, Holoprosencephaly, Hydrocele testis ORPHA:1449
Charge Syndrome
Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Crypt... OMIM:214800
Holoprosencephaly 1
Ethmocephaly, Alobar holoprosencephaly, Single ventricle OMIM:236100
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Holoprosencephaly OMIM:618820
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Lobar holoprosencephaly ORPHA:468631
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly ORPHA:141099
Pallister-Hall Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Holoprosencephaly, Atrial se... ORPHA:672
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect, Semil... OMIM:301044
Townes-Brocks Syndrome 1
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect... OMIM:107480
Monosomy 13Q14
Holoprosencephaly ORPHA:1587
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Xerostomia, Semilobar holoprosencephaly OMIM:129900
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased testicular size, Holoprosencephaly ORPHA:95494
Senior-Loken Syndrome
ORPHA:3156
Nephronophthisis 15
OMIM:614845

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 Cep164

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 Cep164.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CEP164 is essential for efferent duct multiciliogenesis and male fertility. Reproduction (Cambridge, England) (July 2021) Cep164tm1c(EUCOMM)Wtsi 34085951
Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Kidney international (May 2019) Cep164tm1a(EUCOMM)Wtsi Cep164tm1c(EUCOMM)Wtsi 31248650

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cep164tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cep164tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cep164tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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