A loxP site was inserted into intron 30 and a second loxP site and a neomycin resistance gene cassette into intron 31. Exon 31 was modified (c.4321C>T substitution) to change codon 1441 from arginine to cysteine (p.Arg1441Cys). In the translated peptide this amino-acid is located in the Roc/GTPase domain. Radioactive in situ hybridization (ISH) showed no changes in the pattern of mRNA expression in the adult CNS. The mRNA level in the striatum was also unchanged compared to wild-type. (J:268730)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Single point
--
1
7
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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