Col4a3^tm1Jhm
Targeted Allele Detail

Summary

• Symbol: Col4a3^tm1Jhm
• Name: collagen, type IV, alpha 3; targeted mutation 1, Jeffrey H Miner
• MGI ID: MGI:1934893
• Synonyms: COL4A3^-
• Gene: Col4a3 Location: Chr1:82564647-82699778 bp, + strand Genetic Position: Chr1, 42.32 cM
• Alliance: Col4a3^tm1Jhm page

Kidney abnormalities in Col4a3^tm1Jhm/Col4a3^tm1Jhm mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:37017
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Replacement of the first three coding exons with a neomycin cassette. No protein was detectable by immunohistochemical analysis on homozygous mice. (J:37017)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Col4a3 Mutation: 62 strains or lines available

References

• Original: J:37017 Miner JH, et al., Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. J Cell Biol. 1996 Dec;135(5):1403-13
• All: 18 reference(s)