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KitW
Spontaneous Allele Detail
Nomenclature
Symbol: KitW
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
Accumulation of lipids in the liver of KitW/KitW-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 detailsA 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 105 assay results
In Structures Affected by this Mutation: 18 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 11 strains available      Cell Lines: 0 lines available
Carrying any Kit Mutation:  149 strains or lines available
Notes
This is an old mutant of the mouse fancy. KitW 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:  308 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
11/30/2021
MGI 6.17
The Jackson Laboratory