Exon 2 was replaced with a floxed neo cassette and an exon 2 containing a nucleotide substitution that resulted in an amino acid substitution of an alanine for an aspartic acid at position 49 (D49A). The absence of protein product was confirmed by western blot analysis on hindlimb extracts. This allele is a null allele. (J:131461)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
--
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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