adipose tissue
• in 1 year old animals, a 50-80% reduction in the size of fat deposits was noted; increasing severity with age
|
muscle
• lower skeletal muscle glycogen concentration in homozygous mice
|
behavior/neurological
• impaired learning ability; mice took 7 times longer to find a submerged platform in a water filled chamber after several trials
|
• mice had impaired ability to remain on a rotating stick compared to controls
|
growth/size/body
• animals are 10% smaller than controls
|
• reduced weight on regular diet; on high fat diet, mice gained significantly less weight than controls
|
• animals are 14% shorter than controls
|
homeostasis/metabolism
• elevated fasting glucose levels
|
• elevated fasting insulin level
|
• serum concentration was reduced by 50% at 20 weeks of age in mice on a normal diet; on high fat diet, serum leptin concentrations remained unchanged or lower, while control mice had significantly higher leptin concentrations
|
• lower skeletal muscle glycogen concentration in homozygous mice
|
reproductive system
infertility
(
J:83536
)
• no pups were produced from matings including hemizygous males
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Coffin-Lowry syndrome | DOID:3783 |
OMIM:303600 |
J:67575 , J:83536 |