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This mutation is a 841,250 bp deletion on chromosome 6, with one breakpoint within the Aldh1l1 gene. This deletion removes all but the last two exons of the Aldh1l1 gene, the entire 5 flanking genomic sequence (putative promoter region), as well as at le ast 27 other upstream genes (J:134595). Neither Aldh1l1 mRNA nor protein is detectable in mutant mice. No no detectable urocanase activity is seen in homozygous mutant mice. (J:21726, J:72944, J:134595)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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References Literature
Title
PMID
Journal
Year
IF
