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Allele : Hkdc1<em2Xjz> hexokinase domain containing 1; endonuclease-mediated mutation 2, Xianjun Zhu

Primary Identifier	MGI:6379690	Allele Type	Endonuclease-mediated
Attribute String	Null/knockout	Gene	Hkdc1
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9-mediated genome editing technology was used to generate an 8 bp deletion in exon 2. This mutation results in a shift in the reading frame, and a premature truncation of the encoded protein.

mutations:
Intragenic deletion

synonyms:
Mut2,
Mut2

earliestPublication:
Zhang L, et al. (2018) Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet 27(23):4157-4168

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

4 Publication categories

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