| Primary Identifier | MGI:7539710 | Allele Type | Spontaneous |
| Attribute String | Null/knockout | Gene | Tnni3k |
| Inheritance Mode | Recessive | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
