This is a spontaneous eight nucleotide (CGACGAGT) deletion at chromosome 15 position 25,781,267-274 bp (GRCm38). The deletion disrupts exon 25 and produces a frame shift expected to truncate the full-length and all three headless transcripts following aa 948. Immunoblot of whole brain lysates from 1-month-old mutant mice revealed combined deletion of the full-length and headless forms, confirming complete loss of encoded protein. (J:222308, J:256438)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.129S2-Cd4tm1Mak/J
Spontaneous
Intragenic deletion
Recessive
1
--
4

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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