This mutation has been identified as a deletion within Dock7 that spans exons 22-28 of the gene's 48 exons, with endpoints in introns 22 and 29. Splicing of exon 21 directly to exon 29 yields an mRNA with a 922 bp deletion encompassing nucleotides 2597-3518 (numbering from the A of the translation initiation codon) and shifts the reading frame after codon 865 so that 30 incorrect amino acids are incorporated into the protein before its premature termination. Although the mutation was discovered among the G3 progeny of an ENU mutagenized male mouse, large deletions are not characteristically induced by ENU, and it is presumed to have occurred spontaneously. (J:146458)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Intragenic deletion
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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