A deletion was created to remove 44 bp from exon 4 (c.1164-1207 Delta44; coordinates refer to human e2 isoform). To match the human sequence more closely, human codons 385 and 386 (PL), which are absent in the endogenous mouse gene, were inserted. The mutation that introduces a frameshift and premature stop codon after codon 388 in human patients, was also created. This mutation is associated with human Rett syndrome. The loxP site flanked neomycin resistance gene and STOP cassette that was inserted into intron 2 was removed through subsequent cre-mediated recombination. The mRNA levels and protein expression from this allele are equivalent to wild-type. (J:265095)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
15
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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