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An ENU induced mutation at position 2 of intron 7 (c.842+2T>A GRCm39:chr2:126762236A>T) changes exon/intron 7 splice donor site C-GT to C-GA, leading to skipping of exon 7. Splicing of exon 8 to exon 6 results in a frame shift and premature stop codon that deleted most of the normal protein including 7 of the 9 transmembrane domains as well as the protease active site. (J:104190, J:194663)
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
