Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Col4a4m1Btlr
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:	Col4a4m1Btlr page

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

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, Col4a4m1Btlr, and may be present in stocks carrying this mutation. Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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:	103 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)