Tnni2^tm1Sgao
Targeted Allele Detail

Summary

• Symbol: Tnni2^tm1Sgao
• Name: troponin I, skeletal, fast 2; targeted mutation 1, Shaorong Gao
• MGI ID: MGI:6270415
• Synonyms: Tnni2^K175del
• Gene: Tnni2 Location: Chr7:141995553-141998147 bp, + strand Genetic Position: Chr7, 87.93 cM
• Alliance: Tnni2^tm1Sgao page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228857
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The codon for lysine 175 (aag) was deleted. This mutation was identified in patients with distal arthrogryposis type 2B. A neomycin resistance cassette was inserted downstream. (J:228857)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	12 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 Tnni2 Mutation: 16 strains or lines available

References

• Original: J:228857 Zhu X, et al., A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice. PLoS Genet. 2014 Oct;10(10):e1004589
• All: 1 reference(s)