Using a 'hit and run' strategy 19 bp in intron 3 were deleted. This region is critical for the production of the Plp1 isoform, and its deletion results in decreased transcript expression of the Plp1 isofom relative to the DM20 isoform as confirmed by RT-PCR on brain extracts. (J:143305)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Intragenic deletion
--
1
7
2

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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