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EN
This spontaneous mutation in chromosome 6 has a G-to-A transition at 91,394,552 (GRCm38) causing the replacement of arginine with tryptophan at amino acid 143 (p.R143W), and also has a 23,106 bp intragenic deletion, 91,371,385-91,394,492, that encompasses a portion of exon 3 and removes the 5' end of intron 3 including the splice donor site. (J:188477, J:222308)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
