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Evc2tm1.1Mis
Targeted Allele Detail
Summary
Symbol: Evc2tm1.1Mis
Name: EvC ciliary complex subunit 2; targeted mutation 1.1, Yuji Mishina
MGI ID: MGI:5697353
Synonyms: Evc2ex12
Gene: Evc2  Location: Chr5:37495843-37582399 bp, + strand  Genetic Position: Chr5, 20.15 cM
Alliance: Evc2tm1.1Mis page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:226455
Parent Cell Line:  A3-1 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
 
Mutation detailsA premature stop codon along with an IRES-lacZ cassette and loxP-flanked neo cassette was inserted into exon 12. This mutation is similar to a nonsense mutation identified in human patients and Japanese Brown cattle. The mutation results in truncation of the encoded protein at position 695. After germline transmission of the mutation, the floxed PGK-neo cassette was removed by breeding with Mox2-Cre mice. Beta-galactosidase staining of a mutant humerus indicated that lacZ is expressed in the growth plate cartilage, perichondrium, ossified tissues and in muscles. (J:226455)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 11 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Evc2 Mutation:  47 strains or lines available
References
Original:  J:226455 Zhang H, et al., Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation. Genesis. 2015 Jul 28;
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/09/2024
MGI 6.24
The Jackson Laboratory