Tnni3kB
Spontaneous Allele Detail
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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
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Alliance: |
Tnni3kB page
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Strain of Origin: |
Not Applicable
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Allele Type: |
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Spontaneous (Null/knockout) |
Mutation: |
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Nucleotide substitutions
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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)
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Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Tnni3k Mutation: |
47 strains or lines available
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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) |
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