Embryos derived from Atxntm1Hzo are further modified to add V591A (GTG to GCC) and S602D (AGT to GAT) mutations in exon 7 that disrupt CIC (capicua) protein interactions. Please note that the mutations V591A and S602D stay consistent with the nomenclature for human ATXN1, however in the mouse these are actually V566A and S577D. Further, these numbers correspond to the wildtype Atxn1 allele and not the polyglutamine expanded allele. Synonymous mutations were also incorporated for genotyping purposes. The mutations are created using CRISPR/cas9 methodologies incorporating gRNA GGTGGAGGACCTGAAGACGG. (J:332730)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.129S7-Atxn1tm1Hzo/J
Endonuclease-mediated
Nucleotide repeat expansion, Nucleotide substitutions
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1
1
1

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

References Literature

Title
PMID
Journal
Year
IF
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