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Mlphln
Spontaneous Allele Detail
Nomenclature
Symbol: Mlphln
Name: melanophilin; leaden
MGI ID: MGI:1856674
Synonyms: ln
Gene: Mlph  Location: Chr1:90915085-90951142 bp, + strand  Genetic Position: Chr1, 45.73 cM
a/a Mlphln/ Mlphln

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BR
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis allele has a C-to-T transition at mRNA nucleotide position 266. This introduces a stop codon at arginine codon 31 (p.R31*) in the sequence of the normally spliced transcript and it also creates a new G-GT splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. Sequence analysis failed to detect any wild-type transcripts. (J:71302)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 3 assay results
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 6 strains available      Cell Lines: 0 lines available
Carrying any Mlph Mutation:  22 strains or lines available
References
Original:  J:17162 Murray JM, "Leaden", a recent color mutation in the house mouse. Am Naturalist. 1933;67:278-283
All:  24 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
07/29/2020
MGI 6.15
The Jackson Laboratory