Col4a3^em1Bghn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Col4a3^em1Bghn
• Name: collagen, type IV, alpha 3; endonuclease-mediated mutation 1, Billy G Hudson
• MGI ID: MGI:6840218
• Synonyms: Col4a3^z
• Gene: Col4a3 Location: Chr1:82564647-82699778 bp, + strand Genetic Position: Chr1, 42.32 cM
• Alliance: Col4a3^em1Bghn page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting of exon 52 introduced a substitution of His1169 with eight new amino acids (QQNCYFS) to produce the Zurich variant associated with glomerular basement membrane diseases in people. (J:313275)

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 Col4a3 Mutation: 63 strains or lines available

References

• Original: J:313275 Pokidysheva EN, et al., Collagen IV(alpha345) dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases. J Biol Chem. 2021 Mar 24;:100590
• All: 1 reference(s)