Nphp4^nmf192
Chemically induced Allele Detail

Summary

• Symbol: Nphp4^nmf192
• Name: nephronophthisis 4 (juvenile) homolog (human); neuroscience mutagenesis facility, 192
• MGI ID: MGI:3032515
• Gene: Nphp4 Location: Chr4:152561163-152647640 bp, + strand Genetic Position: Chr4, 83.14 cM, cytoband E2
• Alliance: Nphp4^nmf192 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU induced a T to A transversion that results in the amino acid substitution of a stop codon for leucine at position 104 (L104X). (J:167232)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nphp4 Mutation: 66 strains or lines available

References

• Original: J:87349 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2004-7
• All: 6 reference(s)