All Phenotypes Lmna<tm1Stw> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Lmna^tm1Stw
targeted mutation 1, Colin L Stewart
MGI:2177930

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lmna^tm1Stw/Lmna^tm1Stw	involves: 129S1/Sv	MGI:2177931
hm2	Lmna^tm1Stw/Lmna^tm1Stw	involves: 129S1/Sv * C57BL/6	MGI:3620910
hm3	Lmna^tm1Stw/Lmna^tm1Stw	involves: 129S1/Sv * C57BL/6J	MGI:3620916
ht4	Lmna^tm1Stw/Lmna⁺	involves: 129S1/Sv	MGI:3620915
ht5	Lmna^tm1Stw/Lmna⁺	involves: 129S1/Sv * C57BL/6J	MGI:3620917
ht6	Lmna^tm1Lgf/Lmna^tm1Stw	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6	MGI:3817521
ht7	Lmna^tm1Stw/Lmna^tm7Lgf	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6	MGI:4840108
ht8	Lmna^tm1Stw/Lmna^tm2Lgf	involves: 129S1/Sv * 129S4/SvJae * C57BL/6	MGI:3620906
cx9	Lmna^tm1Stw/Lmna⁺ Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129S1/Sv * 129S4/SvJae * C57BL/6	MGI:3620911
cx10	Lmna^tm1Stw/Lmna^tm1Stw Zmpste24^tm1Sgy/Zmpste24⁺	involves: 129S1/Sv * 129S4/SvJae * C57BL/6	MGI:3620913
cx11	Lmna^tm1Stw/Lmna^tm1Stw Zmpste24^tm1Sgy/Zmpste24^tm1Sgy	involves: 129S1/Sv * 129S4/SvJae * C57BL/6	MGI:3620914
cx12	Lmna^tm1Stw/Lmna⁺ Mlip^{tm1.1(cre)Dzw}/Mlip^{tm1.1(cre)Dzw}	involves: 129S1/Sv * C57BL/6	MGI:5907352
cx13	Lmna^tm1Stw/Lmna^tm1Stw Mlip^{tm1.1(cre)Dzw}/Mlip^{tm1.1(cre)Dzw}	involves: 129S1/Sv * C57BL/6	MGI:5907353
cx14	Lmna^tm1Stw/Lmna^tm1Stw Mlip^{tm1.1(cre)Dzw}/Mlip⁺	involves: 129S1/Sv * C57BL/6	MGI:5907354
cx15	Lmna^tm1Stw/Lmna^tm1Stw Sln^em1Cyh/Sln^em1Cyh	involves: 129S1/Sv * C57BL/6J	MGI:6407445

Allelic Composition	Lmna^tm1Stw/Lmna^tm1Stw
Genetic Background	involves: 129S1/Sv

Find Mice

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

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

mortality/aging

premature death ( J:58702 )

• all die by 8 weeks of age

cellular

abnormal cell nucleus morphology ( J:58702 )

• in MEFs, nuclei appear elongated or irregular with loss of B-type lamins from 1 pole, slight clustering of nuclear pore complexes, and loss of emerin from the nuclear envelope into the cytoplasm

• in MEFs and hepatocytes, patchy thinning or loss of heterochromatin from the nuclear face of the inner nuclear membrane is seen and these regions also lack identifiable nuclear pore complexes

• the nuclear envelope is more easily fragmented during isolation

growth/size/body

decreased body weight ( J:58702 )

• at 4 weeks, mean body weight is about 50% of wild-type and heterozygous littermates

postnatal growth retardation ( J:58702 )

• growth retardation is seen by 2-3 weeks of age and growth ceases by 4 weeks of age

muscle

dystrophic muscle ( J:58702 )

• muscles surrounding the femur and perivertebral muscles are dystrophic while cardiac muscle is variably affected with ventricular muscle more severely impaired; however, muscles in the head, tongue and diaphragm are relatively normal

• muscle fibers are variably affected with those closer to the bone being more severely impaired

• no elevation of serum creatine kinase levels are detected

muscle degeneration ( J:58702 )

• in the heart, some ventricular myocytes show signs of degeneration often associated with patchy mineralization

behavior/neurological

decreased grip strength ( J:58702 )

• at 3-4 weeks mice have reduced grip strength

abnormal gait ( J:58702 )

• at 3-4 weeks mice display a stiff walking posture with splayed hind legs

skeleton

kyphoscoliosis ( J:58702 )

• progressive kyphoscoliosis starting around 3-4 weeks of age

adipose tissue

decreased white adipose tissue amount ( J:58702 )

• absence of white fat

nervous system

abnormal axon morphology ( J:75378 )

• sciatic nerve axon density is reduced, axon diameter is increased, and nonmyelinated axons are present

abnormal sciatic nerve morphology ( J:75378 )

• sciatic nerve axon density is reduced, axon diameter is increased, and nonmyelinated axons are presen

abnormal myelination ( J:75378 )

• nonmyelinated axons are present in the sciatic nerve

immune system

thymus atrophy ( J:58702 )

• probably secondary to physiological stress

small spleen ( J:58702 )

• probably secondary to physiological stress

hematopoietic system

thymus atrophy ( J:58702 )

• probably secondary to physiological stress

small spleen ( J:58702 )

• probably secondary to physiological stress

endocrine/exocrine glands

thymus atrophy ( J:58702 )

• probably secondary to physiological stress

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2B1	DOID:0110156	OMIM:605588	J:75378
dilated cardiomyopathy 1A	DOID:0110425	OMIM:115200	J:87613 , J:131905
Emery-Dreifuss muscular dystrophy	DOID:11726	OMIM:PS310300	J:58702

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

Find Mice

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

reproductive system

azoospermia ( J:88595 )

• spermatids and spermatozoa are largely absent

arrest of male meiosis ( J:88595 )

• increased frequency of leptotene and zygotene spermatocytes and decreased frequency of pachytene and diplotene spermatocytes resulting from arrest and apoptosis of spermatocytes during the pachytene stage

• however, oogenesis in females is normal

• unpaired chromosomes and/or improperly paired sex chromosomes and failure to progress through prophase I are seen

small seminiferous tubules ( J:88595 )

small testis ( J:88595 )

endocrine/exocrine glands

small seminiferous tubules ( J:88595 )

small testis ( J:88595 )

cellular

azoospermia ( J:88595 )

• spermatids and spermatozoa are largely absent

arrest of male meiosis ( J:88595 )

• however, oogenesis in females is normal

• unpaired chromosomes and/or improperly paired sex chromosomes and failure to progress through prophase I are seen

Allelic Composition	Lmna^tm1Stw/Lmna^tm1Stw
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

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

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

homeostasis/metabolism

decreased circulating glucose level ( J:75101 )

• at 4 weeks serum glucose levels are decreased however insulin levels are only slightly and not significantly decreased

decreased circulating triglyceride level ( J:75101 )

• only significant in 4 week old females although levels in males also tend to be lower

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	familial partial lipodystrophy	DOID:0050440	OMIM:PS151660	J:75101

Allelic Composition	Lmna^tm1Stw/Lmna⁺
Genetic Background	involves: 129S1/Sv

Find Mice

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

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

cellular

abnormal cell nucleus morphology ( J:58702 )

• in many MEFs, nuclei appear elongated but distribution of nuclear envelope proteins is normal except for increased levels of cytoplasmic emerin

Allelic Composition	Lmna^tm1Stw/Lmna⁺
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

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

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

homeostasis/metabolism

increased circulating insulin level ( J:75101 )

• on a high fat diet, females develop mild insulin resistance that correlates with increased body weight, no insulin resistance is seen in males

• on a normal diet, serum glucose, insulin, and triglyceride levels are normal, insulin sensitivity and glucose tolerance

insulin resistance ( J:75101 )

• on a high fat diet, females develop increased insulin but not glucose levels

adipose tissue

adipose tissue phenotype ( J:75101 )

N	• no signs of lipoatrophy are seen

liver/biliary system

liver/biliary system phenotype ( J:75101 )

N	• liver morphology is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	familial partial lipodystrophy	DOID:0050440	OMIM:PS151660	J:75101

Allelic Composition	Lmna^tm1Lgf/Lmna^tm1Stw
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm1Lgf mutation (0 available); any Lmna mutation (84 available)
Lmna^tm1Stw mutation (3 available); any Lmna mutation (84 available)

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

mortality/aging

premature death ( J:113119 )

• mice die between 10 and 14 weeks of age

skeleton

abnormal skeleton morphology ( J:113119 )

• mice develop fractures in the extremities by 8 weeks of age

Allelic Composition	Lmna^tm1Stw/Lmna^tm7Lgf
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm1Stw mutation (3 available); any Lmna mutation (84 available)
Lmna^tm7Lgf mutation (0 available); any Lmna mutation (84 available)

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

cellular

abnormal cell nucleus morphology ( J:165928 )

• misshapen

Allelic Composition	Lmna^tm1Stw/Lmna^tm2Lgf
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)
Lmna^tm2Lgf mutation (0 available); any Lmna mutation (84 available)

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

normal phenotype

no abnormal phenotype detected ( J:106473 )

• viable and fertile with normal growth and muscle strength

Allelic Composition	Lmna^tm1Stw/Lmna⁺ 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

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^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^tm1Stw 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

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⁺ Mlip^{tm1.1(cre)Dzw}/Mlip^{tm1.1(cre)Dzw}
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm1Stw mutation (3 available); any Lmna mutation (84 available)
Mlip^{tm1.1(cre)Dzw} mutation (0 available); any Mlip mutation (28 available)

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

cardiovascular system

dilated heart left ventricle ( J:227485 )

• progressive increase in left ventricular internal dimension at end-diastole from 6 to 12 months of age

dilated cardiomyopathy ( J:227485 )

• at 12 months of age

decreased cardiac muscle contractility ( J:227485 )

• progressive decrease in fractional shortening from 6 to 12 months of age

muscle

dilated cardiomyopathy ( J:227485 )

• at 12 months of age

decreased cardiac muscle contractility ( J:227485 )

• progressive decrease in fractional shortening from 6 to 12 months of age

Allelic Composition	Lmna^tm1Stw/Lmna^tm1Stw Mlip^{tm1.1(cre)Dzw}/Mlip^{tm1.1(cre)Dzw}
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:227485 )

• die earlier than mice homozygous for the Lmna mutation alone

cardiovascular system

dilated heart left ventricle ( J:227485 )

• dilation is more severe than in mice homozygous for the Lmna mutation alone

decreased cardiac muscle contractility ( J:227485 )

• cardiac dysfunction is more severe than in mice homozygous for the Lmna mutation alone

muscle

decreased cardiac muscle contractility ( J:227485 )

• cardiac dysfunction is more severe than in mice homozygous for the Lmna mutation alone

Allelic Composition	Lmna^tm1Stw/Lmna^tm1Stw Mlip^{tm1.1(cre)Dzw}/Mlip⁺
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:227485 )

• die earlier than mice homozygous for the Lmna mutation alone

Allelic Composition	Lmna^tm1Stw/Lmna^tm1Stw Sln^em1Cyh/Sln^em1Cyh
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmna^tm1Stw mutation (3 available); any Lmna mutation (84 available)
Sln^em1Cyh mutation (0 available); any Sln mutation (11 available)

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

growth/size/body

decreased body weight ( J:284048 )

• decreased body weight, with body weight similar to single Lmna homozygous mutants

mortality/aging

premature death ( J:284048 )

• mice show increased lethality beginning around 20 days of age and die before 60 days of age

• median lifespan is lower than in single Lmna homozygous mice

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