All but 62 5' bp of exon 3 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encompassed 179 bp of exon 3 and 918 bp of intron 3. Northern blot and RT-PCR analyses showed an absence of wild-type transcript but identified a mutant transcript in which exon 3 was skipped and exons 2 and 4 spliced. Sequence analysis of the aberrant trancscript indicated a frameshift mutation beginning at position 57 and resulting in a stop codon at position 105. Protein was undetected by Western blot analysis using an antibody directed against residues 71 through 92. (J:85561)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Intragenic deletion
--
1
8
34

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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