Mlph<ln> Spontaneous Allele Detail MGI Mouse (MGI:1856674)

Mlph^ln
Spontaneous Allele Detail

Summary

Symbol:	Mlph^ln
Name:	melanophilin; leaden
MGI ID:	MGI:1856674
Synonyms:	ln
Gene:	Mlph Location: Chr1:90842807-90878864 bp, + strand Genetic Position: Chr1, 45.73 cM
Alliance:	Mlph^ln page

a/a Mlph^ln/ Mlph^ln

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 details: This 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

View phenotypes and curated references for all genotypes (concatenated display).

Expression

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: 6 strains available Cell Lines: 0 lines available
Carrying any Mlph Mutation:	38 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:	27 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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