Tnni3k^B
Spontaneous Allele Detail

Summary

• Symbol: Tnni3k^B
• Name: TNNI3 interacting kinase; B
• MGI ID: MGI:7539710
• Synonyms: D allele, Hrtfm2^DBA/2J, Hrtfm8^DBA/2J
• Gene: Tnni3k Location: Chr3:154491928-154761044 bp, - strand Genetic Position: Chr3, 79.32 cM
• Alliance: Tnni3k^B page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: This 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

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: 43 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)