Col4a4^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Col4a4^m1Btlr
• Name: collagen, type IV, alpha 4; mutation 1, Bruce Beutler
• MGI ID: MGI:4838032
• Synonyms: Aoba
• Gene: Col4a4 Location: Chr1:82426144-82564570 bp, - strand Genetic Position: Chr1, 42.2 cM
• Alliance: Col4a4^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation has been identified as a G to A transition that impairs the donor splice site of intron 8. Reverse transcription of mRNA followed by PCR amplification revealed a deletion of 8 nucleotides in the transcript, resulting in a frame-shift that causes the addition after amino acid 176 of 13 aberrant amino acids followed by a premature termination codon. (J:158794) Additional incidental mutations were detected in sequencing for the causative mutation, Col4a4^m1Btlr, and may be present in stocks carrying this mutation.
• Inheritance: Recessive

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 Col4a4 Mutation: 105 strains or lines available

References

• Original: J:158794 Beutler B, Phenotypic mutations from the MUTAGENETIX^TMENU mutagenesis project. MGI Direct Data Submission. 2010
• All: 2 reference(s)