Nucleotide substitutions were introduced in exon 13, resulting in two amino acid substitution (p.S679R and p.P682E) in the Hook domain of the encoded peptide. A loxP site flanked neomycin resistance gene cassette was inserted into intron 13. The amino acid substitutions introduce charged residues in the vicinity of the cysteines that coordinate zinc and results in a hypomorphic allele. Presence of the neo cassette reduced expression of the mutant gene. (J:209141)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Nucleotide substitutions
--
1
2
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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