All Phenotypes Zmpste24<tm1Sgy> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	B6.129S4-Zmpste24^tm1Sgy	MGI:3620988
hm2	Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129S4/SvJae	MGI:4457611
hm3	Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129S4/SvJae * C57BL/6	MGI:3620907
ht4	Zmpste24^tm1Sgy/Zmpste24⁺	involves: 129S4/SvJae * C57BL/6	MGI:3620909
cx5	Lmna^tm6Lgf/Lmna^tm6Lgf Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5754491
cx6	Lmna^tm10Lgf/Lmna^tm10Lgf Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5754490
cx7	Lmna^tm6Lgf/Lmna^tm6Lgf Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:4457612
cx8	Lmna^tm6Lgf/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:4457613
cx9	Lmna^tm7Lgf/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:4840110
cx10	Lmna^tm1Stw/Lmna^tm1Stw Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129S1/Sv * 129S4/SvJae * C57BL/6	MGI:3620914
cx11	Lmna^tm1Stw/Lmna^tm1Stw Zmpste24^tm1Sgy/Zmpste24⁺	involves: 129S1/Sv * 129S4/SvJae * C57BL/6	MGI:3620913
cx12	Lmna^tm1Stw/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129S1/Sv * 129S4/SvJae * C57BL/6	MGI:3620911
cx13	Lmna^tm2Lgf/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129S4/SvJae * C57BL/6	MGI:3620908

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zmpste24^tm1Sgy mutation (2 available); any Zmpste24 mutation (32 available)

♀	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

Allelic Composition	Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zmpste24^tm1Sgy mutation (2 available); any Zmpste24 mutation (32 available)

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

mortality/aging

decreased survivor rate ( J:160705 )

premature death ( J:160705 )

postnatal lethality, complete penetrance ( J:165928 )

• mice die by P20

skeleton

abnormal skeleton morphology ( J:160705 )

• osteolytic lesion

rib fractures ( J:160705 , J:165928 )

• spontaneous (J:160705)

growth/size/body

decreased body weight ( J:160705 , J:165928 )

• far smaller than wild-type mice (J:160705)

behavior/neurological

aphagia ( J:160705 )

• invariably die from severe, progressive inanition

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

A Zmpste24^tm1Sgy/Zmpste24^tm1Sgy mouse.

mortality/aging

premature death ( J:79501 , J:106473 )

• mice die or require euthanasia by 6-7 months of age (J:79501)

skeleton

abnormal long bone morphology ( J:79501 )

abnormal fibula morphology ( J:79501 )

• thinner cortical bone and increased pock marking

abnormal tibia morphology ( J:79501 )

• thinner cortical bone

abnormal axial skeleton morphology ( J:79501 )

abnormal craniofacial bone morphology ( J:79501 )

abnormal cranial suture morphology ( J:79501 , J:95274 )

• the zigzag appearance of cranial sutures is reduced at 2-3 months of age (J:79501)

abnormal zygomatic arch morphology ( J:79501 )

• unhealed fractures result in replacement of the posterior portion of the zygomatic arch with fibrous material containing bone spicules and necrotic debris

• however, at 18 days of age zygomatic arch morphology appears normal

abnormal incisor morphology ( J:95274 )

abnormal lower incisor morphology ( J:79501 )

• at 3 months, lower incisors appear splayed apart, thin and long

long lower incisors ( J:79501 )

• at 3 months

abnormal mandible morphology ( J:95274 )

• osteolytic lesion

micrognathia ( J:79501 )

• at 2 to 3 months but not 18 days

abnormal zygomatic bone morphology ( J:95274 )

abnormal rib morphology ( J:95274 )

rib fractures ( J:79501 )

• by 24-30 weeks, nearly every rib is broken near the costovertebral junction and at the tip

abnormal thoracic vertebrae morphology ( J:79501 )

• bone density is reduced, bodies appear more porous, trabecular bone volume/total bone volume is reduced by 34%, and the thickness of trabeculae is reduced by 36%

kyphosis ( J:79501 )

• at 6-8 weeks of age

abnormal bone structure ( J:79501 )

decreased bone mineral density of presacral vertebrae ( J:79501 )

• bone density is reduced in thoracic vertebrae; however, plasma levels of calcium and phosphate are similar to wild-type and no change in bone turnover rate is detected

decreased compact bone thickness ( J:79501 )

• thinner cortical bone in the tibia and fibula even when corrected for bone size

abnormal trabecular bone morphology ( J:79501 )

• in the thoracic vertebrae trabecular bone volume/total bone volume is reduced by 34%, and the thickness of trabeculae is reduced by 36%

abnormal skeleton physiology ( J:79501 )

fragile skeleton ( J:95274 , J:106473 )

cellular

abnormal cell nucleus morphology ( J:95274 , J:106473 )

• nuclear envelopes contain frequent blebs (J:95274)

• MEFs display blebbing of the nuclear membrane (J:106473)

abnormal cell physiology ( J:79501 )

• striking accumulation of prelamin A in fibroblasts

growth/size/body

abnormal incisor morphology ( J:95274 )

abnormal lower incisor morphology ( J:79501 )

• at 3 months, lower incisors appear splayed apart, thin and long

long lower incisors ( J:79501 )

• at 3 months

cachexia ( J:79501 )

• at 6-8 weeks of age homozygotes appear very malnourished

postnatal growth retardation ( J:79501 , J:95274 , J:106473 )

• weigh slightly less at weaning and gain weight slowly (J:79501)

• severe growth retardation by 4 months of age (J:106473)

behavior/neurological

abnormal grip strength ( J:95274 , J:106473 )

• impaired grip strength by 4 months of age (J:106473)

decreased grip strength ( J:79501 )

• only able to hang from a wire grid for a few seconds

abnormal gait ( J:79501 )

• slow, hobbling gait with frequent dragging of the hindlimbs

homeostasis/metabolism

decreased circulating glucose level ( J:79501 )

• probably secondary to malnutrition

decreased circulating total protein level ( J:79501 )

• probably secondary to malnutrition

muscle

progressive muscle weakness ( J:79501 , J:95274 )

• muscle weakness that worsens with age; however no abnormalities are seen in skeletal muscle fiber morphology (J:79501)

adipose tissue

decreased subcutaneous adipose tissue amount ( J:79501 )

• reduced but present, likely secondary to malnutrition

cardiovascular system

cardiovascular system phenotype ( J:79501 )

N	• no heart pathology is seen at any age

liver/biliary system

liver/biliary system phenotype ( J:79501 )

N	• no liver pathology is seen at any age

limbs/digits/tail

abnormal fibula morphology ( J:79501 )

• thinner cortical bone and increased pock marking

abnormal tibia morphology ( J:79501 )

• thinner cortical bone

craniofacial

abnormal craniofacial bone morphology ( J:79501 )

abnormal cranial suture morphology ( J:79501 , J:95274 )

• the zigzag appearance of cranial sutures is reduced at 2-3 months of age (J:79501)

abnormal zygomatic arch morphology ( J:79501 )

• unhealed fractures result in replacement of the posterior portion of the zygomatic arch with fibrous material containing bone spicules and necrotic debris

• however, at 18 days of age zygomatic arch morphology appears normal

abnormal incisor morphology ( J:95274 )

abnormal lower incisor morphology ( J:79501 )

• at 3 months, lower incisors appear splayed apart, thin and long

long lower incisors ( J:79501 )

• at 3 months

abnormal mandible morphology ( J:95274 )

• osteolytic lesion

micrognathia ( J:79501 )

• at 2 to 3 months but not 18 days

abnormal zygomatic bone morphology ( J:95274 )

integument

decreased subcutaneous adipose tissue amount ( J:79501 )

• reduced but present, likely secondary to malnutrition

alopecia ( J:79501 )

• at 6-8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
progeria		DOID:3911	OMIM:176670	J:95274

Allelic Composition	Zmpste24^tm1Sgy/Zmpste24⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zmpste24^tm1Sgy mutation (2 available); any Zmpste24 mutation (32 available)

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

skeleton

abnormal thoracic vertebrae morphology ( J:79501 )

• at 15 months of age in 2 of 2 heterozygotes degraded transverse and spinous processes are seen

abnormal lumbar vertebrae morphology ( J:79501 )

• at 15 months of age in 2 of 2 heterozygotes degraded transverse and spinous processes are seen

growth/size/body

weight loss ( J:79501 )

• seen in older heterozygotes (around 15 months of age)

behavior/neurological

weakness ( J:79501 )

• appear weak at 15 months of age

integument

alopecia ( J:79501 )

• at 15 months of age

Allelic Composition	Lmna^tm6Lgf/Lmna^tm6Lgf Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm6Lgf mutation (0 available); any Lmna mutation (84 available)
Zmpste24^tm1Sgy mutation (2 available); any Zmpste24 mutation (32 available)

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

digestive/alimentary system

digestive/alimentary phenotype ( J:220988 )

N	• mice do not exhibit intestinal abnormalities

Allelic Composition	Lmna^tm10Lgf/Lmna^tm10Lgf Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm10Lgf mutation (0 available); any Lmna mutation (84 available)
Zmpste24^tm1Sgy mutation (2 available); any Zmpste24 mutation (32 available)

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

digestive/alimentary system

abnormal esophageal squamous epithelium morphology ( J:220988 )

• esophagus shows a cornified squamous epithelium

dilated esophagus ( J:220988 )

• mice develop dilated, yellow esophagus

distended cecum ( J:220988 )

abnormal colon morphology ( J:220988 )

• dilated proximal colon

esophageal achalasia ( J:220988 )

• thinning and fibrosis of the muscularis externa, pathology similar to achalasia

muscle

esophageal achalasia ( J:220988 )

• thinning and fibrosis of the muscularis externa, pathology similar to achalasia

nervous system

nervous system phenotype ( J:220988 )

N	• mice show no pathology in the central nervous system

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achalasia		DOID:9164	OMIM:200400	J:220988

Allelic Composition	Lmna^tm6Lgf/Lmna^tm6Lgf Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Find Mice

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

mortality/aging

decreased survivor rate ( J:160705 )

• survival is worse than in Zmpste24 single mutants

premature death ( J:160705 )

• survival is worse than in Zmpste24 single mutants

growth/size/body

decreased body weight ( J:160705 )

• smaller than Zmpste24 single mutants

Allelic Composition	Lmna^tm6Lgf/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Find Mice

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

mortality/aging

decreased survivor rate ( J:160705 )

• survival is worse than in Zmpste24 single mutants

premature death ( J:160705 )

• survival is worse than in Zmpste24 single mutants

growth/size/body

decreased body weight ( J:160705 )

• smaller than Zmpste24 single mutants

Allelic Composition	Lmna^tm7Lgf/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm7Lgf mutation (0 available); any Lmna mutation (84 available)
Zmpste24^tm1Sgy mutation (2 available); any Zmpste24 mutation (32 available)

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

mortality/aging

mortality/aging ( J:165928 )

N	• mice exhibit normal survival

skeleton

decreased susceptibility to bone fracture ( J:165928 )

• compared to in Zmpste24^tm1Sgy homozygotes

growth/size/body

growth/size/body region phenotype ( J:165928 )

N	• body weight is normal

Allelic Composition	Lmna^tm1Stw/Lmna^tm1Stw Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm1Stw mutation (3 available); any Lmna mutation (84 available)
Zmpste24^tm1Sgy mutation (2 available); any Zmpste24 mutation (32 available)

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

mortality/aging

premature death ( J:95274 )

• die by 4-6 weeks of age

growth/size/body

postnatal growth retardation ( J:95274 )

muscle

muscle weakness ( J:95274 )

Allelic Composition	Lmna^tm1Stw/Lmna^tm1Stw Zmpste24^tm1Sgy/Zmpste24⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:95274 )

• die by 4-6 weeks of age

growth/size/body

postnatal growth retardation ( J:95274 )

muscle

muscle weakness ( J:95274 )

Allelic Composition	Lmna^tm1Stw/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * C57BL/6

Find Mice

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

skeleton

skeleton phenotype ( J:95274 )

N	• no bone fractures or other skeletal abnormalities are seen

cellular

cellular phenotype ( J:95274 )

N	• normal nuclear envelope morphology in MEFs

growth/size/body

growth/size/body region phenotype ( J:95274 )

N	• improved growth compared to mice homozygous for Zmpste24^tm1Sgy only

muscle

muscle phenotype ( J:95274 )

N	• muscle strength is similar to wild-type

Allelic Composition	Lmna^tm2Lgf/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm2Lgf mutation (0 available); any Lmna mutation (84 available)
Zmpste24^tm1Sgy mutation (2 available); any Zmpste24 mutation (32 available)

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

skeleton

skeleton phenotype ( J:106473 )

N	• no bone fractures or other skeletal abnormalities are seen

cellular

cellular phenotype ( J:106473 )

N	• far fewer misshapen nuclei in MEFs

growth/size/body

growth/size/body region phenotype ( J:106473 )

N	• normal growth

muscle

muscle phenotype ( J:106473 )

N	• muscle strength is similar to wild-type

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