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Allele : Ighmbp2<em1Cx> immunoglobulin mu DNA binding protein 2; endonuclease-mediated mutation 1, Gregory Cox

Primary Identifier	MGI:7495583	Allele Type	Endonuclease-mediated
Attribute String	Not Specified	Gene	Ighmbp2
Inheritance Mode	Recessive	Strain of Origin	C57BL/6J
Is Recombinase	false	Is Wild Type	false

molecularNote

This deletion of 3 base pairs, GAG, from exon 8 (c.1093_1095del) resulted in the in-frame loss of a glutamic acid at amino acid 365, which is in the helicase domain. Transcript levels were not found to be significantly reduced.

mutations:
Intragenic deletion

synonyms:
E365del,
E365del

earliestPublication:
Martin PB, et al. (2023) Clinically relevant mouse models of Charcot-Marie-Tooth type 2S. Hum Mol Genet 32(8):1276-1288

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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