Point mutations were introduced to alter the codon at position 79 from one encoding aspartic acid to one encoding asparagine. RNase protection assays indicated that normal levels of transcript were produced from this allele, but binding assays indicated that no functional protein was present in isolated brain membranes of homozygous mice. (J:34820)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Nucleotide substitutions
--
1
--
16

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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