Col4a1^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Col4a1^tm1.1Ics
• Name: collagen, type IV, alpha 1; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:5896437
• Synonyms: Col4a1^G498V
• Gene: Col4a1 Location: Chr8:11248423-11362826 bp, - strand Genetic Position: Chr8, 5.53 cM
• Alliance: Col4a1^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240798
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A G to T mutation was engineered in exon 25 to change codon 498 from a glycine to a valine codon (G498V). This mutation mimics one found in some human patients suffering from HANAC (hereditary angiopathy, nephropathy, aneurysms, and muscle cramps) syndrome. The loxP site flanked neomycin resistance gene cassette that was inserted into intron 25 as part of the targeting procedure was removed through cre-mediated recombination. Immunofluorescence experiments show reduced expression from the mutant allele in homozygous mice. (J:240798)

Disease models

Expression

In Structures Affected by this Mutation:

18 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 Col4a1 Mutation: 78 strains or lines available

References

• Original: J:240798 Chen Z, et al., HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease. J Am Soc Nephrol. 2016 Apr;27(4):1042-54
• All: 6 reference(s)