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Exon 7 was replaced with one in which a C to T transition at position 6 of this exon. A floxed pgk-neo selection cassette was inserted about 180 bp distal to exon 7 in the antisense orientation. Analysis of protein expression indicates very low levels of Smn1 and that this is a hypomorphic allele. (J:176267)
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
