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The transgene was designed to have the modified ~6.5 kbp mouse Thy1.2 promoter (Thy1 sequences extending from the promoter to the intron following exon 4, excluding exon 3 and its flanking introns) followed by a cDNA sequence encoding the human ubiquilin 2 protein harboring a proline-to-serine missense mutation at amino acid 497. UBQLN2 missense mutations (including this one) are linked to dominant inheritance of amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). Founder line 3 was found to have 5 copies of the transgene. (J:239510)
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
