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Mlphln-2Btlr
Chemically induced Allele Detail
Summary
Symbol: Mlphln-2Btlr
Name: melanophilin; leaden 2 Bruce Beutler
MGI ID: MGI:5688600
Synonyms: beau
Gene: Mlph  Location: Chr1:90842807-90878864 bp, + strand  Genetic Position: Chr1, 45.73 cM
Alliance: Mlphln-2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to C transition at base pair 90,928,122 (v38) on chromosome 1, or base pair 13,101 in the GenBank genomic region NC_000067. The mutation corresponds to residue 428 in the mRNA sequence NM_053015 within exon 3 of 16 total exons. The mutation results in a cysteine (C) to arginine (R) substitution at position 84 (C84R) in the protein. (J:224669)
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 Mlph Mutation:  38 strains or lines available
References
Original:  J:224669 Daniel C, et al., Mutagenetix entry for beau. MGI Direct Data Submission. 2015;
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
11/19/2024
MGI 6.24
The Jackson Laboratory