Nphp1^tm1.1Hung
Targeted Allele Detail

Summary

• Symbol: Nphp1^tm1.1Hung
• Name: nephronophthisis 1 (juvenile) homolog (human); targeted mutation 1.1, Hung Li
• MGI ID: MGI:3813273
• Synonyms: Nphp1^del20
• Gene: Nphp1 Location: Chr2:127582652-127630817 bp, - strand Genetic Position: Chr2, 62.09 cM, cytoband F3
• Alliance: Nphp1^tm1.1Hung page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:140205
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Nphp1^tm1Hung homozygotes were crossed with a cre transgenic strain to remove exon 20. This exon contains the polyadenylation signal so upon its excision, a truncated transcript with a shorter half-life was predicted to occur. While truncated mRNA was detectable, immunoblotting testes extract with thee different antibodies failed to detect any full length or truncated protein. (J:140205)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Nphp1 Mutation: 26 strains or lines available

References

• Original: J:140205 Jiang ST, et al., Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. Hum Mol Genet. 2008 Nov 1;17(21):3368-79
• All: 3 reference(s)