Histidine codon 131 (CAC) in the single exon was changed to glutamine (CAG) (p.H131Q) and an FRT site flanked neomycin resistance gene cassette and a loxP site were inserted upstream and second loxP site downstream. The mutation is associated with orofacial clefts (OFCs) in humans. The neo cassette was removed through subsequent flp-mediated recombination. (J:311539)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Targeted
Insertion, Single point
--
1
5
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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