Homozygous mutants exhibit shorter body length than littermates, bellies resembling a squared lump, short noses, short limbs and short tails. Mutants are also deaf. Female homozygotes breed poorly and produce small litters. Male homozygotes are not able to breed but cryopreserved sperm function satisfactorily in in vitro fertilization.
The achondroplasia 3 Jackson mutation arose spontaneously in 2006 in the MRL/MpJ-Faslpr/J strain at The Jackson Laboratory. The Faslpr mutation was bred out of this mutant subline by backcross-intercross breeding to MRL/MpJ. Sperm was cryopreserved from homozygous males at generation N3F5.
|Allele Name||achondroplasia 3 Jackson|
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Npr2, natriuretic peptide receptor 2|
|Strain of Origin||MRL/MpJ-Faslpr/J|
|Molecular Note||A failed complementation test of this spontaneous mutant with the Npr2cn-2J allele demonstrated that this mutation is an allele of Npr2, and a G-to-A transition was identified in chromosome 4 position 43650227 (GRCm38), which is in exon 19 and causes an alanine to threonine substitution at position 931 (p.A931T).|