Nucleotide substitutions were introduced in exon 13, resulting in an amino acid substitution (p.V683R) in the Hook domain of the encoded peptide. A loxP site flanked neomycin resistance gene cassette was inserted into intron 13. The amino acid substitution introduces a charged residue in the vicinity of the cysteines that coordinate zinc and resulted in a hypomorphic allele. (J:209141)

Basic Information

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