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A neo replaced exons 3-5 and the 5' end of exon 6, deleting sequence corresponding to the putative lipid kinase catalytic domain, which contains the conserved domains C1, C2, C3 and part of C4, and a putative nucleotide binding motif. Absence of mRNA was demonstrated in kidney samples by Northern blot and RT-PCR analyses. (J:95168)
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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References Literature
Title
PMID
Journal
Year
IF
