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A nucleotide substitution was created in exon 7, giving rise to a glycine to arginine codon change for codon 213 (p.G213R). This mutation is equivalent to the p.G215R mutation in human, which is associated with autosomal dominant osteopetrosis type II (ADO2). A loxP site flanked neomycin resistance gene cassette that was inserted was subsequently deleted through cre-mediated recombination. (J:240468)
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
