Npr2^slw
Spontaneous Allele Detail

Summary

• Symbol: Npr2^slw
• Name: natriuretic peptide receptor 2; short-limbed dwarfism
• MGI ID: MGI:3774275
• Gene: Npr2 Location: Chr4:43631935-43651244 bp, + strand Genetic Position: Chr4, 23.05 cM
• Alliance: Npr2^slw page

Mutation origin

• Strain of Origin: DDY

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A noncomplementation test with mice carrying the Npr2^cn allele demonstrated that this mutation is an allele of Npr2. A 7-base deletion was identified in exon 8. The deletion caused a frameshift and the appearance of a premature termination codon at codon 513. (J:163374)
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Npr2 Mutation: 61 strains or lines available

References

• Original: J:129973 Sogawa C, et al., Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. J Hered. 2007 Sep-Oct;98(6):575-80
• All: 6 reference(s)