A single C-to-A point mutation was identified in exon 4, causing a change of alanine codon 96 to glutamic acid (p.A98E). (J:161692, J:222308)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(WC/ReJ KitlSl x B6.D2-KitlSl-d/J)F1-KitlSl/KitlSl-d/J
Spontaneous
Single point
Recessive
1
4
1

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

References Literature

Title
PMID
Journal
Year
IF
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