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Allele : Tnni3k<em4Hsv> TNNI3 interacting kinase; endonuclease-mediated mutation 4, Henry M Sucov

Primary Identifier	MGI:6506814	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence	Gene	Tnni3k
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9 technology generated an isoleucine (ATC) codon to a threonine (ACA) codon at position 685 (I685T) in exon 21. An additional base change in the third position of the following glycine codon was introduced to eliminate the Cas9 PAM sequence to prevent retargeting.

mutations:
Nucleotide substitutions

synonyms:
I685T,
I685T

earliestPublication:
Gan P, et al. (2021) The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice. Hum Mol Genet 29(21):3504-3515

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

2 Publication categories

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