Nphp3^tm1Cbe
Targeted Allele Detail

Summary

• Symbol: Nphp3^tm1Cbe
• Name: nephronophthisis 3 (adolescent); targeted mutation 1, Carsten Bergmann
• MGI ID: MGI:3809285
• Gene: Nphp3 Location: Chr9:103879743-103921010 bp, + strand Genetic Position: Chr9, 56.11 cM
• Alliance: Nphp3^tm1Cbe page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:139258
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: An IRES-LacZ-neo cassette was inserted into exon 3 and exons 4 and 5 and introns 3 and 4 were removed via homologous recombination. Western blot analysis confirmed absence of protein expression in homozygous embryos. (J:139258)

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	3 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 Nphp3 Mutation: 77 strains or lines available

References

• Original: J:139258 Bergmann C, et al., Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008 Apr;82(4):959-70
• All: 1 reference(s)