Sequence encompassing a portion of intron 4 and all of exon 5 was replaced with a Hprt minigene inserted by homologous recombination. The deleted region encoded the conserved zinc-binding site of the catalytic domain. Northern blot analysis of total RNA obtained from homozygous mutant incisor homogenates indicated a lack of transcript containing exon 5. Enamelysin activity was undetected by zymography of proteins isolated from molars of postnatal homozygous mutant mice. (J:80925)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Intragenic deletion
--
1
2
15

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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