Homozygotes can be detected by 5 to 7 weeks of age due to their elongated bodies, kinked tails, and conical extension of the body. With age, homozygotes appear thinner than normal with thoracic kyphosis. Their digits are often banded, twisted and deformed. A hearing deficit is also found in homozygotes assessed between 3 and 5 weeks of age.
The longjohn 3 Jackson mutation arose spontaneously in 2005 in the C57BL/6J inbred strain at The Jackson Laboratory. It was maintained on this background by sibling inbreeding heterozygotes and homozygotes, and in 2009 sperm was cryopreserved from homozygous males at generation F7.
|Allele Name||longjohn 3 Jackson|
|Gene Symbol and Name||Npr3, natriuretic peptide receptor 3|
|Strain of Origin||C57BL/6J|
|Molecular Note||Failed complementation test with Npr3 |