Npr2^cn
Spontaneous Allele Detail

Summary

• Symbol: Npr2^cn
• Name: natriuretic peptide receptor 2; achondroplasia
• MGI ID: MGI:1856702
• Synonyms: cn
• Gene: Npr2 Location: Chr4:43631935-43651244 bp, + strand Genetic Position: Chr4, 23.05 cM
• Alliance: Npr2^cn page

Npr2^cn/Npr2^cn and control

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: AKR/J

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: The molecular basis of this mutation is a T-to-G transversion resulting in a leucine to arginine change in codon 885 (p.L885R). This is a missence mutation resulting in production of an inactive form of Npr2. (J:98753)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	24 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Npr2 Mutation: 61 strains or lines available

References

• Original: J:26341 Dickie MM, New mutant - achondroplasia - cn. Mouse News Lett. 1960;23:34
• All: 24 reference(s)