Exon 1 was deleted by crossing animals carrying mutant allele Numbtm1Lso to the cre deleter line TgN(EIIa-cre)C5379Lmgd. Homozygous mutant embryos were observed up to day E10.5. RT-PCR analysis detected a mutant transcript lacking exon 1, and Western blot analysis detected a 65 kDa protein product presumably translated from methionine 55 of the mutant transcript. The truncated protein would not be functional since it lacks the arginine at position 53 required for binding activity. (J:68652)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Intragenic deletion
--
1
--
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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