Phenotypes Associated with This Genotype

Genotype
MGI:3620988

• Allelic Composition: Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
• Genetic Background: B6.129S4-Zmpste24^tm1Sgy

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

extended life span ( J:106706 )

• treatment with an FTI increased the survival of both male and female mutants significantly compared with vehicle-treated mutant controls; by 20 weeks of age, 6 of 14 vehicle-treated mutants had died, but only 1 of 13 FTI-treated mutants was dead

growth/size/body

increased susceptibility to weight gain ( J:106706 )

• male and female mutant mice treated with an FTI gain more weight than vehicle treated controls

skeleton

fragile skeleton ( J:106706 )

• at 20 weeks, the median number of rib fractures in FTO-treated mice is 2, compared to 14 in vehicle treated mice

behavior/neurological

abnormal grip strength ( J:106706 )

• 100% of male and female mutant mice receiving vehicle exhibit abnormal grip strength by 16 weeks of age; only 28% of female and 33% of male mutants receiving a farnesyltransferase inhibitor (FTI) show a grip abnormality in a grid-hang test

• the delay in appearance of grip abnormalities is significant for male and female mutants

• the mean length of hang time of inhibitor-treated mice is longer than for vehicle treated mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
progeria		DOID:3911	OMIM:176670	J:106706