Hkdc1^em2Xjz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hkdc1^em2Xjz
• Name: hexokinase domain containing 1; endonuclease-mediated mutation 2, Xianjun Zhu
• MGI ID: MGI:6379690
• Synonyms: Mut2
• Gene: Hkdc1 Location: Chr10:62218916-62258270 bp, - strand Genetic Position: Chr10, 32.4 cM
• Alliance: Hkdc1^em2Xjz page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: 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. (J:266978)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Hkdc1 Mutation: 39 strains or lines available

References

• Original: J:266978 Zhang L, et al., Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 Dec 1;27(23):4157-4168
• All: 2 reference(s)