Kit<W> Spontaneous Allele Detail MGI Mouse (MGI:1856232)

Kit^W
Spontaneous Allele Detail

Summary

Symbol:	Kit^W
Name:	KIT proto-oncogene receptor tyrosine kinase; dominant spotting
MGI ID:	MGI:1856232
Synonyms:	W
Gene:	Kit Location: Chr5:75735647-75817382 bp, + strand Genetic Position: Chr5, 39.55 cM
Alliance:	Kit^W page

Accumulation of lipids in the liver of Kit^W/Kit^W-v mice

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

Mutation
origin

Strain of Origin:

old mutant of the mouse fancy

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: A G-to-A substitution at the first nucleotide at the 5' boundary of intron 10 following the transmembrane exon 10 results in two different aberrantly spliced transcripts putatively expressed in a tissue specific manner. A deletion of 107 bp was found in transcripts from mast cells of mutant mice. A deletion of 234 bp was found in transcripts from brain or bone marrow cells. The mutation disrupts splice donotr site G-GT by changing it to G-AT point, thereby causing exon skipping. The 107 bp deletion could have resulted from skipping of a transmembrane region exon and the 234 bp deletion from skipping 3 exons. The 107 bp deletion would create a frame shift with a stop codon 12 bp downstream, whereas the larger deletion would still be in frame. Northern blot analysis indicated that mast cells from mutants have only 31-37% of the transcripts as mast cells derived from normal bone marrow, suggesting that the mutation may reduce efficiency and authenticity of transcription and splicing. (J:91867)
Inheritance:		Semidominant

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	107 assay results 3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	18 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Kit^W

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 10 strains available Cell Lines: 0 lines available
Carrying any Kit Mutation:	182 strains or lines available

Notes

This is an old mutant of the mouse fancy. Kit^W mutants are a potential model for human inherited pure red cell anemia, called Diamond-Blackfan anemia (OMIM 205900), but mouse mutants do not respond to corticosteroid treatment as do human patients. Thus, the mechanism of anemia causation in the two conditions must be different (J:14286).

References

Original:	J:12955 Dunn LC, Studies on Spotting Patterns II. Genetic Analysis of Variegated Spotting in the House Mouse. Genetics. 1937 Jan;22(1):43-64
All:	336 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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