Col5a1^em1Brle
Endonuclease-mediated Allele Detail

Summary

• Symbol: Col5a1^em1Brle
• Name: collagen, type V, alpha 1; endonuclease-mediated mutation 1, Brendan Lee
• MGI ID: MGI:7314199
• Synonyms: Col5a1^delta
• Gene: Col5a1 Location: Chr2:27776437-27929526 bp, + strand Genetic Position: Chr2, 19.38 cM, cytoband A2-B
• Alliance: Col5a1^em1Brle page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting exon 48 introduced an out of frame deletion of 28 bp leading to a premature stop codon 158 amino acids after the deletion that terminates protein translation at amino acid 1405. (J:326524)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Col5a1 Mutation: 66 strains or lines available

References

• Original: J:326524 Machol K, et al., Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome. Hum Mol Genet. 2022 Apr 22;31(8):1325-1335
• All: 1 reference(s)