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The molecular lesion is in Dnaaf1 (NM_026648) at chr8:119582732 bp (exon 4: c.556 + 2T - C). This is in the splice donor site of exon 4, two bases distal from the exon. This results in splicing mutations, with both skipping of exon 4 and retention of intron 4 seen in RT-PCR analysis. Either splicing mutation will result in premature truncation of the encoded protein. (J:199782, J:240195)
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
