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Exon 6 was replaced wiht on in which a point mutation (C to A) results in the amino acid substitution of glutamine for proline at position 141 (P141Q). Cre-mediate recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon. The modification mimics one identified in human patients with Autosomal-Dominant Dentin Dysplasia Type I. Real-time PCR confirmed reduced transcript expression in the underjaw tissue in homozygotes. (J:240559)
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
