Evc2^tm1.1Mis
Targeted Allele Detail

Summary

• Symbol: Evc2^tm1.1Mis
• Name: EvC ciliary complex subunit 2; targeted mutation 1.1, Yuji Mishina
• MGI ID: MGI:5697353
• Synonyms: Evc2^ex12
• Gene: Evc2 Location: Chr5:37495843-37582399 bp, + strand Genetic Position: Chr5, 20.15 cM
• Alliance: Evc2^tm1.1Mis 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 details: A 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)

Disease models

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)