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Col4a4m1Btlr
Chemically induced Allele Detail
Nomenclature
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
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
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:  68 strains or lines available
References
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory