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A G to T change was made at the intron 2 splice donor site (GAC/g taagtgttttaacctt to GAC/t taagtgttttaagctt) reproducing the c.544+1G>T human spicing point mutation. In addition, a loxP-flanked neomycin resistance cassette was inserted within intron 1 and excised via cre-mediated recombination. Transcript and protein levels are reduced during development and levels of protein, but not transcript, are reduced in postnatal life in heterozygotes. None of the potential truncated proteins encoded by alternative spliced transcripts are detected. (J:306107)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
