Cdk5rap2^em1Mama
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cdk5rap2^em1Mama
• Name: CDK5 regulatory subunit associated protein 2; endonuclease-mediated mutation 1, Marcos Malumbres
• MGI ID: MGI:7661143
• Synonyms: Cdk5rap2(delta10)
• Gene: Cdk5rap2 Location: Chr4:70135092-70328672 bp, - strand Genetic Position: Chr4, 35.92 cM, cytoband C2
• Alliance: Cdk5rap2^em1Mama page

Mutation origin

• Strain of Origin: (C57BL/6 x CBA)F2

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 10 bp deletion in exon 3 upstream of the TGA codon. No detectable protein is seen at the centrosome in homozygous mouse embryonic fibroblasts. (J:310617)

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 Cdk5rap2 Mutation: 87 strains or lines available

References

• Original: J:310617 Gonzalez-Martinez J, et al., Deficient adaptation to centrosome duplication defects in neural progenitors causes microcephaly and subcortical heterotopias. JCI Insight. 2021 Aug 23;6(16)
• All: 1 reference(s)