About   Help   FAQ
Chemically induced Allele Detail
Symbol: Col4a4m1Btlr
Name: collagen, type IV, alpha 4; mutation 1, Bruce Beutler
MGI ID: MGI:4838032
Synonyms: Aoba
Gene: Col4a4  Location: Chr1:82448423-82586849 bp, - strand  Genetic Position: Chr1, 42.2 cM
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThe 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, Col4a4m1Btlr, and may be present in stocks carrying this mutation.
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  56 strains or lines available
Original:  J:158794 Beutler B, Phenotypic mutations from the MUTAGENETIXTMENU mutagenesis project. MGI Direct Data Submission. 2010;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.11
The Jackson Laboratory