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A G to A transition at position 905 (c.G905A) resulting in an arginine to histidine substitution at amino acid 302 (p.R302H) was introduced in exon 4. In addition, an FRT-flanked neomycin selection cassette and loxP site were inserted upstream of exon 3 and a second loxP site was inserted downstream of mutated exon 4. The selection cassette was removed via flp-mediated recombination and cre-mediated recombination deleted exons 3 and 4. Real-time PCR confirmed absence of mRNA in skin. (J:282272)
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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
