Cep135^em2Mama
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cep135^em2Mama
• Name: centrosomal protein 135; endonuclease-mediated mutation 2, Marcos Malumbres
• MGI ID: MGI:7661141
• Synonyms: Cep135^delta8
• Gene: Cep135 Location: Chr5:76736545-76794313 bp, + strand Genetic Position: Chr5, 41.31 cM
• Alliance: Cep135^em2Mama 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 an 8 bp deletion in exon 2 between the ATG and TGA codons, generating a premature stop codon in exon 3. No detectable protein is seen at the centrosome in homozygous mouse embryonic fibroblasts. (J:310617)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	12 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 Cep135 Mutation: 72 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)