Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
caveolae associated 2
Synonyms:
cavin 2,  Sdpr

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 Cavin2 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 Cavin2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... ORPHA:2258
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:1166
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Klippel-Trénaunay Syndrome
Cellulitis, Abnormality of the pulmonary artery ORPHA:90308
Congenital Rubella Syndrome
Abnormality of the pulmonary artery ORPHA:290
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Pulmonary arterial medial hypertrophy, Pulmonary aterial intim... OMIM:178600
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Lipoatrophy, Abnormality of the pulmonary ar... ORPHA:363618
Diabetic Embryopathy
Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:1926
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery ORPHA:1131
Dextrocardia
Abnormal pulmonary situs morphology, Abnormality of the pulmonary artery, Abnormal lung lobation ORPHA:1666
Pagod Syndrome
Omphalocele, Abnormal aortic morphology, Congenital diaphragmatic hernia, Pulmonary artery hypopl... ORPHA:991
Noonan Syndrome With Multiple Lentigines
Abnormality of the pulmonary artery ORPHA:500
Atypical Werner Syndrome
Neoplasm of the lung, Chondrocalcinosis, Generalized lipodystrophy, Premature arteriosclerosis, L... ORPHA:79474
Peters Plus Syndrome
Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery, Umbilical hernia, Inguin... ORPHA:709
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Coarctation of aorta, Abnormality of the pulmonary artery, Flexion contracture, Camptodactyly, Pu... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Coarctation of aorta, Abnormality of the pulmonary artery, Flexion contracture, Camptodactyly, Pu... ORPHA:261552

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 Cavin2

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 Cavin2.

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

Title Journal IMPC Allele PubMed ID
Deletion of cavin genes reveals tissue-specific mechanisms for morphogenesis of endothelial caveolae. Nature communications (January 2013) Cavin2tm1(KOMP)Vlcg PMC3674239

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MGI Allele Allele Type Produced
Cavin2tm284548(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cavin2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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