SNP rs33645709, a spontaneously arising C-to-A point mutation identified in DBA/2J, causes a proline to threonine mutation at amino acid position 77 (p.P77T) in the second transmembrane domain near the cytoplasmic side. (J:224677)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
DBA/2J
Spontaneous
Single point
Recessive
1
--
3

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

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PMID
Journal
Year
IF
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