The molecular mutation is a G-to-T base pair change on chromosome 9 at 53,157,219 (GRCm38/mm10). This single base pair change results in a p.D736E mutation, changing a highly conserved amino acid in the encoded protein. (J:223062)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x 129S1/SvImJ)F2/J
Spontaneous
Single point
Recessive
1
--
2

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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