Col4a4^m1H
Chemically induced Allele Detail

Summary

• Symbol: Col4a4^m1H
• Name: collagen, type IV, alpha 4; mutation 1, Harwell
• MGI ID: MGI:6501795
• Synonyms: Col4a4^C400X
• Gene: Col4a4 Location: Chr1:82426144-82564570 bp, - strand Genetic Position: Chr1, 42.2 cM
• Alliance: Col4a4^m1H page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: The ENU-induced mutation was isolated in a screen looking for mice exhibiting end stage renal disease and was identified as a G to T change at position 1198 resulting in a glycine change to a stop codon at amino acid 400 (p.G400*). Immunofluorescence of kidneys confirmed absence of protein in glomeruli of homozygous mice. (J:285510)

Disease models

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 Col4a4 Mutation: 103 strains or lines available

References

• Original: J:285510 Falcone S, et al., Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background. Sci Rep. 2019 Dec 31;9(1):20398
• All: 1 reference(s)