|
|
| Nomenclature |
|
Symbol:
|
KitW
|
|
Name:
|
kit oncogene;
dominant spotting
|
|
MGI ID: |
MGI:1856232 |
|
Synonyms: |
W |
|
Gene:
|
Kit
Location:
Chr5:75574916-75656722 bp, + strand
Genetic Position: Chr5,
39.55 cM
|
|
Accumulation of lipids in the liver of KitW/KitW-v mice
Show the 1 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 guanosine to adenosine substitution at the first nucleotide at the 5' boundary of the intron following the transmembrane exon 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 was found in transcripts from brain or bone marrow cells. The GT to AT point mutation probably disrupted a splice donor site, 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 generate a stop codon 12 bp downstream because of a frame shift, 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 for all genotypes (concatenated display).
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
|
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: |
217 reference(s)
|
|
Analysis Tools
