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Exon 2 was replaced with an exon 2 that contained a nucleotide substitution that resulted in an amino acid substitution of arginine for glycine at position 67 (G67R). This substitition occurs within the ATPase domain. A floxed neo cassette was also inserted into intron 1 but was subsequently removed by germ-line, cre-mediated recombination. (J:133352)
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
