This phenotypic mutant was identified in an ENU mutagenesis screen. Molecular sequence analysis revealed that an T-to-A transversion mutation had occurred that is predicted to change the amino acid leucine 1404 to histidine in the encoded protein. This conserved residue is within the S5-S6 pore loop of transmembrane domain 3. (J:90095)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
11
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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