A transgene insertion into chromosome 2 caused a nearby deletion event that disrupted the expression of several genes. A 313 kb deletion in chromosome 2 overlapped two genes, Otud1 and 4921522E24Rik, and disrupted the expression of a third upstream gene, Ptf1a. All three genes, which are normally expressed in the developing brain, had no expression in the cerebellum of E12.5 homozygotes. However, expression of Ptf1a in the pancreas was unaffected. The transgene that caused the deletion consisted of a mouse albumin enhancer and promoter fused to cDNA that encoded a secreted isoform of the human klotho gene. The transgene was expressed in the liver and the secreted protein was detectable in the serum of heterozygote mice. Mice homozygous for this transgene/deletion exhibit similar cerebellar defects as mice homozygous for a null allele of Ptf1a. (J:100997)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
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Insertion, Intergenic deletion
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--
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4

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

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PMID
Journal
Year
IF
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