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Tnni3kB
Spontaneous Allele Detail
Summary
Symbol: Tnni3kB
Name: TNNI3 interacting kinase; B
MGI ID: MGI:7539710
Synonyms: D allele, Hrtfm2DBA/2J, Hrtfm8DBA/2J
Gene: Tnni3k  Location: Chr3:154491928-154761044 bp, - strand  Genetic Position: Chr3, 79.32 cM
Alliance: Tnni3kB page
Mutation
origin
Strain of Origin:  Not Applicable
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Nucleotide substitutions
 
Mutation detailsThis naturally occurring strain-specific allele is the minor allele and represents the A variant of coding SNP rs30712233 and the C variant of splice region SNP rs49812611 and is found in DBA/2J, C3H/HeJ and BALB/cByJ and others. These variants are G and T, respectively, in the reference C57BL/6J strain and in AKR/J and 129S1/SvImJ and others. The G>A variant (c.1976C>T) changes threonine codon 659 (ACT) to isoleucine (ATT) (p.T659I) and the T>C splicing variant at the 9th nucleotide of intron 19 (c.1875+9A>G) disrupts splicing by activating a cryptic splice donor site 4 NT into the intron, which leads to a frameshift and premature stop codon. (J:154116, J:339644)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 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 Tnni3k Mutation:  47 strains or lines available
References
Original:  J:154116 Wheeler FC, et al., Tnni3k modifies disease progression in murine models of cardiomyopathy. PLoS Genet. 2009 Sep;5(9):e1000647
All:  2 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
11/12/2024
MGI 6.24
The Jackson Laboratory