Gene Summary

Name:
clusterin associated protein 1
Synonyms:
2310030D15Rik,  2610111M03Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal response to tactile stimuli Cluap1tm1a(KOMP)Wtsi HET   Early adult 2.43×10-06

Download data as:  TSV  XLS

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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 N/A heterozygote 66.67% (2 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 66.67% (2 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 33.33% (1 of 3)
Gall bladder N/A heterozygote 33.33% (1 of 3)
Heart N/A heterozygote 66.67% (2 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 66.67% (2 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 33.33% (1 of 3)
Lung N/A heterozygote 66.67% (2 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 66.67% (2 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 33.33% (1 of 3)
Oviduct N/A heterozygote 33.33% (1 of 3)
Pancreas N/A heterozygote 33.33% (1 of 3)
Parathyroid gland N/A heterozygote 66.67% (2 of 3)
Peripheral nervous system N/A heterozygote 100% (3 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 33.33% (1 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 66.67% (2 of 3)
Skin N/A heterozygote 33.33% (1 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 100% (3 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 66.67% (2 of 3)
Thymus N/A heterozygote 66.67% (2 of 3)
Thyroid gland N/A heterozygote 66.67% (2 of 3)
Trachea N/A heterozygote 66.67% (2 of 3)
Uterus N/A heterozygote 33.33% (1 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 82 images

Human diseases caused by Cluap1 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 Cluap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 14
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent inner dynein arms, ... OMIM:613807
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Renpenning Syndrome
Heterotaxy ORPHA:3242
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Hydrocephalus, Transposition of the great arteries OMIM:314390
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Diets-Jongmans Syndrome
Polyhydramnios, Ventricular septal defect, Umbilical hernia, Heterotaxy OMIM:618846
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Fountain Syndrome
Spina bifida, Spina bifida occulta, Facial edema ORPHA:3219
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular... ORPHA:99776
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2437
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Hydromyelia, Lipomyelomeningocele, Hydroc... ORPHA:268810
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Double outlet right ventricle, Me... OMIM:605376
Iniencephaly
Polyhydramnios, Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele... ORPHA:63259
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Meningocele, Hydranencephaly, Myelomeningocele ORPHA:1393
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Ventricular septal defect, Patent... OMIM:256520
Dextrocardia
Situs inversus totalis, Hydrocephalus, Abnormal heart morphology, Dextrocardia, Abnormality of ab... ORPHA:1666
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Trisomy 18
Spina bifida, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Holoprosencephaly... ORPHA:3380
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Hydrocephalus ORPHA:3412
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Atrial septal defect, Edema of the dorsum of hands, Ventricular septal defect, Edem... OMIM:274000
Pagod Syndrome
Meningocele, Spina bifida, Situs inversus totalis, Hypoplastic left heart ORPHA:991
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Neu-Laxova Syndrome
Polyhydramnios, Spina bifida ORPHA:2671
Focal Dermal Hypoplasia
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Abnormal car... ORPHA:2092
22Q11.2 Deletion Syndrome
Polyhydramnios, Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventri... ORPHA:567
Fanconi Anemia
Spina bifida, Atrial septal defect, Azoospermia, Oligohydramnios, Patent ductus arteriosus, Abnor... ORPHA:84
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular septal de... ORPHA:508498
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Nail-Patella Syndrome
Spina bifida OMIM:161200
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Jacobsen Syndrome
Spina bifida, Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect ORPHA:2308
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmoni... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmoni... ORPHA:363958
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Aicardi Syndrome
Spina bifida OMIM:304050
Schinzel-Giedion Syndrome
Abnormal heart morphology, Umbilical hernia, Neural tube defect ORPHA:798
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:220386
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Patent urachus, Tetralogy of F... OMIM:192350
Split Cord Malformation
Cervical spina bifida, Hydromyelia, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocep... ORPHA:573278
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322

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 Cluap1

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 Cluap1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cluap1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cluap1tm1a(KOMP)Wtsi PMC6459510
Mammalian Clusterin associated protein 1 is an evolutionarily conserved protein required for ciliogenesis. Cilia (November 2012) Cluap1tm1a(KOMP)Wtsi PMC3556011

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MGI Allele Allele Type Produced
Cluap1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cluap1tm42399(L1L2_Bact_P) Targeting vectors
Cluap1tm42399(L1L2_Pgk_PM) Targeting vectors

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