Ugt1^tm1.1Afmu
Targeted Allele Detail

Summary

• Symbol: Ugt1^tm1.1Afmu
• Name: UDP glucuronosyltransferase 1 complex; targeted mutation 1.1, Andres F Muro
• MGI ID: MGI:5320594
• Gene: Ugt1 Location: unknown Genetic Position: Chr1, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:182805
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• 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: 2 strains or lines available

References

• 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: 7 reference(s)