A neomycin selection cassette was used to replace sequence from exons 6, 7, and 8. The deleted region encompassed 268 nucleotides encoding a portion of the catalytic domain. Low levels of a peptide, slightly smaller than normal, were detected by Western blot analysis of extracts obtained from homozygous mutant fetuses. The mutant peptide could not be detected by immunohistochemical analysis of fetal adrenals or in fetal or postnatal brains. (J:54692)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Intragenic deletion
Recessive
1
2
6

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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