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Targeted Allele Detail
Symbol: Ugt1tm1.1Afmu
Name: UDP glucuronosyltransferase 1 complex; targeted mutation 1.1, Andres F Muro
MGI ID: MGI:5320594
Gene: Ugt1  Location: unknown  Genetic Position: Chr1, Syntenic
Germline Transmission:  Earliest citation of germline transmission: J:182805
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Inserted expressed sequence, Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA loxP site was inserted upstream of exon 4, a single base pair deletion was introduced in exon 4, and a loxP site and FRT flanked neo cassette were inserted downstream of exon 4 via homologous recombination. Flp mediated recombination removed the neo cassette. The single base pair deletion in exon 4 results in a frameshift mutation and a premature stop codon. Northern blot analysis showed a decrease in mRNA expression to 22% of wild-type in homozygous mice at P5. No protein expression was detected by western blot analysis of liver protein extracts from homozygous mice. (J:182805)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ugt1 Mutation:  1 strain or line available
Original:  J:182805 Bortolussi G, et al., Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. FASEB J. 2012 Mar;26(3):1052-63
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory