The (CGG)6 repeats in exon 1 were replaced with two different Sfi 1 sites and these sites were used to insert a premutation-sized repeat tract that was generated by serial ligation of short, stable CGG.GCC-repeat. In addition a 38LoxP vector containing a loxP flanked neomycin resistance cassette was inserted into intron 1. Crossing with mice expressing cre in the germline removed the neo cassette. These mice contain large repeat expansions that transform a premutation-sized allele into a full mutation sized allele in a single generation. (J:121413)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion
--
1
5
17

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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