A CGC to CAC codon substitution was made in exon 4, changing residue arginine 191 to histamine, loxP sites were inserted flanking exons 3 and 7, and a FRT-flanked neomycin resistance cassette was inserted between exons 2 and 3. The neomycin resistance cassette was removed via flp-mediated recombination. The R191H mutation is homologous to the human R195H mutation that causes an infantile-onset, rapidly progressing form of vanishing white matter. (J:278928)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Targeted
Insertion, Single point
--
1
6
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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top