Log In|Sign Up
EN
Exons 5-7 (and intervening introns) were replaced with the human equivalents where exon 6 has a p.Phe252Ile (or p.F213I) mutation (NM_000157.4:c.754T>A). The FRT site flanked neomycin resistance gene cassette that was inserted was removed through subsequent Flp-mediated recombination. The human mutation is associated with Gaucher disease (GD). (J:325557)
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
