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Tnni2tm1Sgao
Targeted Allele Detail
Nomenclature
Symbol: Tnni2tm1Sgao
Name: troponin I, skeletal, fast 2; targeted mutation 1, Shaorong Gao
MGI ID: MGI:6270415
Synonyms: Tnni2K175del
Gene: Tnni2  Location: Chr7:142441816-142444410 bp, + strand  Genetic Position: Chr7, 87.93 cM
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 detailsThe 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)
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: 12 anatomical structures
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:  8 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)

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
01/14/2020
MGI 6.14
The Jackson Laboratory