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A transgenic construct containing the SMN(A111G) missense mutation under the control of 4.1 kb SMN promoter was injected into fertilized FVB/N mouse eggs. Eleven founder lines were obtained and line 588 was subsequently established. This line was found to have 4 copies of the transgene. The transgene integrated on chromosome 8 (119838039-119852117; mouse mm10]), which resulted in a duplication of the 14 kb genomic region in between the two identified fusion points. This duplicated region includes exons 1 and 2 of the Cotl1 locus. It is not known if the duplicated region expresses any Cotl1 isoforms or truncated protein. (J:101977, J:148541)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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References Literature
Title
PMID
Journal
Year
IF
