The promoter region and exons 1 and 2 were replaced with a neomycin cassette via homologous recombination. Northern blot verified the absence of gene transcript in muscle and heart from homozygous mutant animals. Immunostaining of capillary basement membrane from homozygous mutants did not detect protein product. (J:74287)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Intragenic deletion
--
1
2
30

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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