A conditional gene trap vector inserted intron 3, which locates upstream of the first open reading frame in exon 7. In homozygous mutant testes samples, protein expression was reduced to ~5.5% of wild-type protein levels. Northern blot analysis revealed that alternative transcripts Sms1-004 (2.5kb) and Sms1-001 (3.7kb) were the major residual transcripts in testes, showing a strong mean reduction to ~3.1% of wild-type levels, reflecting the detected amount of protein. The transcript Sms1-002 (4.0kb), which initiates upstream of the insertion site, was expressed in marginal amounts in wild-type but was not detected in mutant testes. (J:249941)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Gene trapped
Insertion of gene trap vector
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1
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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

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PMID
Journal
Year
IF
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