Exon 2 was replaced with a modified exon 2 in which a C to G point mutation results in the amino acid substitution of aspartic acid for histidine at position 67 (p.H67D). The mutation recapitulates the human mutation, p.H63D, observed in many patients with hereditary hemochromatosis (HH). A loxP site flanked neomycin resistance gene cassette was inserted into intron 2. (J:101977, J:201948)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Single point
--
1
14
4

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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top