A large ~8kb insertion is present in a region of exon 2 located between nucleotides 205 and 215 of the coding cDNA. The transcript expressed from this allele contains a 167 bp deletion covering sequences in exon 2, and leads to a frameshift mutation and the appearance of a premature stop codon. The predicted protein is expected to be truncated and missing most of the extracellular domain, the transmembrane domian and the cytoplasmic domain. (J:103167)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.KB2-Cln8mnd
Spontaneous
Insertion
Recessive
1
2
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

Title
PMID
Journal
Year
IF
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