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Mlphln-Btlr
Chemically induced Allele Detail
Summary
Symbol: Mlphln-Btlr
Name: melanophilin; leaden Bruce Beutler
MGI ID: MGI:3784966
Synonyms: koala, Mlphm1Btlr
Gene: Mlph  Location: Chr1:90842807-90878864 bp, + strand  Genetic Position: Chr1, 45.73 cM
Alliance: Mlphln-Btlr page
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 is an A-to-G transition at nucleotide position 18194 (Genbank genomic region NC_000067), near the 3' end of the sixth intron, that may impair the intron 6 acceptor splice site. Sequence analysis of Mlph cDNA from koala mutants has not been done; the effect of the mutation on transcript processing or protein translation is not known. (J:133625)
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:133625 Arnold CN, et al., Koala is an allele of Mlph and displays pigmentation defects. 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
04/16/2024
MGI 6.23
The Jackson Laboratory