Npr3^lgj
Spontaneous Allele Detail

Summary

• Symbol: Npr3^lgj
• Name: natriuretic peptide receptor 3; longjohn
• MGI ID: MGI:1857837
• Synonyms: lgj
• Gene: Npr3 Location: Chr15:11839982-11907287 bp, - strand Genetic Position: Chr15, 5.83 cM
• Alliance: Npr3^lgj page

Wild-type and Npr3^lgj-2J/Npr3^lgj-2J, Npr3^lgj/Npr3^lgj and Npr3^stri/Npr3^stri mutants showing kyphosis.

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: An in-frame 36 bp deletion of coding nucleotides 196-231 (c.196_231del) deletes 12 amino acids in the extracellular domain of the encoded peptide (p.(Arg66_Ser77del)) that are highly conserved among species. (J:57460)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

7 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 Npr3 Mutation: 49 strains or lines available

Notes

Genbank: AF131862

References

• Original: J:57460 Jaubert J, et al., Three new allelic mouse mutations that cause skeletal overgrowth involve the natriuretic peptide receptor C gene (Npr3). Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10278-83
• All: 2 reference(s)