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2.0 kb of sequence, including exons 2 and 3, was replaced with a neomycin selection cassette. The deleted region contained the start codons for the three known isoforms and encoded portions of the PTB domain in each. Though transcript was undetected in homozygous mutant mice, a truncated protein (40 kD) was identified by Western blot analysis of total embryonic RNA. RT-PCR and in vitro transcription/translation analysis showed aberrant splicing involving the neo transgene and initiation of translation to be at codon 134. (J:62182)
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
