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This mutation was identified in a screen of archived DNA from a large-scale ENU mutagenesis project for mutations in the cis-acting limb specific regulatory sequence ("mammal-fish-conserved-sequence 1", MFCS1) of the sonic hedgehog gene, which resides ~1 Mb proximal to Shh in intron 5 of the Lmbr1 gene. The mutation comprises a A-to-T mutation at position 1203 of this sequence; the nucleotide sequence flanking the mutation site is TCTGGAGTTC [A-to-T] TTATGAAAATC. (J:133634)
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
