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Myo5ad-Btlr
Chemically induced Allele Detail
Summary
Symbol: Myo5ad-Btlr
Name: myosin VA; dilute Bruce Beutler
MGI ID: MGI:3777919
Synonyms: new gray
Gene: Myo5a  Location: Chr9:74978297-75130970 bp, + strand  Genetic Position: Chr9, 42.26 cM
Alliance: Myo5ad-Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Nucleotide substitutions
 
Mutation detailsThe mutation is a dinucleotide transition in adjacent nucleotides (GC to AT) at positions 1972 and 1973 (Genbank Accession NM_010864), in exon 13 of 41 exons, that changes two codons such that two amino acids in the head region of the protein are altered: methionine at amino acid position 515 is replaced by isoleucine (p.M515I) and proline at position 516 by serine (p.P516S). (J:133117)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Myo5a Mutation:  265 strains or lines available
References
Original:  J:133117 Eidenschenk C, et al., New gray, an ENU-induced Myo5a mutation conferring dilute coat color and black eyes. MGI Direct Data Submission. 2008;
All:  1 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
10/29/2024
MGI 6.24
The Jackson Laboratory