Exons 5 through 7 were initially flanked by an upstream floxed tk-neo cassette and a downstream single loxP site, then deleted via cre mediated recombination in ES cells. In addition to lacking sequence encoding the large sialyl motif necessary for nucleotide sugar binding and enzymatic activity, the allele passed into the germline also contained a frameshift mutation within exon 8. Transcript was undetected by Northern blot analysis of homozygous mutant mice. (J:80884)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Intragenic deletion
--
1
--
22

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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