Log In|Sign Up
EN
Exon 2 was replaced with a modified exon 2, which contains a nucleotide substitution of A to G causing an S78G amino acid change, mimicking the mutation causing the autosomal recessive GRACILE syndrome in human. Cre-mediated recombination removed the floxed neo cassette inserted upstream of the modified exon 2. (J:189652)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
