Col4a4^bwk
Spontaneous Allele Detail

Summary

• Symbol: Col4a4^bwk
• Name: collagen, type IV, alpha 4; bilateral wasted kidneys
• MGI ID: MGI:4838011
• Synonyms: bwk
• Gene: Col4a4 Location: Chr1:82426144-82564570 bp, - strand Genetic Position: Chr1, 42.2 cM
• Alliance: Col4a4^bwk page

Mutation origin

• Strain of Origin: NONcNZO4/Lt

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: The mutation was identified as a G to A subsitition in the first base of intron 30. As a result exon 30 is skipped, however, the mRNA reading frame is maintained. Protein and immunohistochemical analysis indicates some alpha4 is produced and forms low levels of collagen IV (alpha3, alpha4, alpha5) trimers. (J:223185)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Col4a4 Mutation: 105 strains or lines available

References

• Original: J:223185 Korstanje R, et al., A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen alpha3alpha4alpha5(IV) trimers. Kidney Int. 2014 Jun;85(6):1461-8
• All: 1 reference(s)