The mutation comprises a T to A transversion at nucleotide 2015 of the mRNA sequence (Genbank record XM_975612; base pair 148939344 on Chromosome 7, NCBI m37 mouse assembly (Build 37.1)). It results in replacement of isoleucine by asparagine at amino acid 672, in exon 44 of the gene's 47 coding exons (XM_975612). (J:159359) Additional incidental mutations were detected in sequencing for the causative mutation, Muc2m2Btlr, and may be present in stocks carrying this mutation.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Not Specified
1
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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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