The gene consists of 6 coding exons (7 total exons). Exons 1 and 2 of transcript NCBI accession BC008980 or exon 1 of transcript Ensembl accession ENST00000376223 were/was targeted. Immunohistochemistry confirmed the absence of protein expression in the limb. (J:171883, J:203823)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Targeted
Intragenic deletion
--
1
--
5

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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