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Spontaneous Allele Detail
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.

Strain of Origin:  C57BR
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 in the sequence of the normally spliced transcript and it also creates a new 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. (J:71302)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
In Mice Carrying this Mutation: 3 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 14 strains available      Cell Lines: 0 lines available
Carrying any Mlph Mutation:  20 strains or lines available
Original:  J:17162 Murray JM, "Leaden", a recent color mutation in the house mouse. Am Naturalist. 1933;67:278-283
All:  20 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory