Zfp469^em1Chms
Endonuclease-mediated Allele Detail

Summary

• Symbol: Zfp469^em1Chms
• Name: zinc finger protein 469; endonuclease-mediated mutation 1, Chloe M Stanton
• MGI ID: MGI:6765940
• Synonyms: Zfp469^BCS
• Gene: Zfp469 Location: Chr8:122985359-122999389 bp, + strand Genetic Position: Chr8, 70.85 cM
• Alliance: Zfp469^em1Chms page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Epitope tag, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology inserted an in-frame V5 tag and a premature stop codon at glycine 634 (p.Gly634) prior to the C2H2 zinc-finger domains. The V5 tag contains a spontaneously arising A>T mutation, resulting in the amino acid change Asn>Ile at position 5 in the V5 tag. RT-qPCR confirmed the presence of a truncated transcript. The stop codon at Gly634 corresponds to one of the brittle cornea syndrome mutations p.Gly677* in human. (J:311083)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Zfp469 Mutation: 17 strains or lines available

References

• Original: J:311083 Stanton CM, et al., A mouse model of brittle cornea syndrome caused by mutation in Zfp469. Dis Model Mech. 2021 Sep 1;14(9):dmm049175
• All: 1 reference(s)