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Allele : Ghitm<em1Ltk> growth hormone inducible transmembrane protein; endonuclease-mediated mutation 1, Institute of Laboratory Animal Science

Primary Identifier	MGI:7442770	Allele Type	Endonuclease-mediated
Attribute String	Not Specified	Gene	Ghitm
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR-targeting of exon 9 introduced the mutation (GAT to CGC) responsible for the amino acid substitution of aspartic acid with arginine at position 326 (D326R).

mutations:
Nucleotide substitutions

synonyms:
Ghitm<em1(D326R)Ltk>,
Ghitm<em1(D326R)Ltk>

earliestPublication:
Zhang L, et al. (2022) TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy. Life Sci Alliance 5(10):e202201478

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

3 Publication categories

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