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Exons 11 and 12 were replaced with a 2.2 kb genomic region that contains an additional cytosine at position 2939 in exon 11 followed by a stop codon. This insertion results in the amino acid substitution of leucine with proline at position 980 (L980P) followed by a premature termination. This mutation is associated with Crohn's disease in humans (3020iC, L1007insC). (J:157879)
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
