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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lmnatm1Stw
targeted mutation 1, Colin L Stewart
MGI:2177930
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lmnatm1Stw/Lmnatm1Stw involves: 129S1/Sv MGI:2177931
hm2
Lmnatm1Stw/Lmnatm1Stw involves: 129S1/Sv * C57BL/6 MGI:3620910
hm3
Lmnatm1Stw/Lmnatm1Stw involves: 129S1/Sv * C57BL/6J MGI:3620916
ht4
Lmnatm1Stw/Lmna+ involves: 129S1/Sv MGI:3620915
ht5
Lmnatm1Stw/Lmna+ involves: 129S1/Sv * C57BL/6J MGI:3620917
ht6
Lmnatm1Lgf/Lmnatm1Stw involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 MGI:3817521
ht7
Lmnatm1Stw/Lmnatm7Lgf involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 MGI:4840108
ht8
Lmnatm1Stw/Lmnatm2Lgf involves: 129S1/Sv * 129S4/SvJae * C57BL/6 MGI:3620906
cx9
Lmnatm1Stw/Lmna+
Zmpste24tm1Sgy/Zmpste24tm1Sgy
involves: 129S1/Sv * 129S4/SvJae * C57BL/6 MGI:3620911
cx10
Lmnatm1Stw/Lmnatm1Stw
Zmpste24tm1Sgy/Zmpste24+
involves: 129S1/Sv * 129S4/SvJae * C57BL/6 MGI:3620913
cx11
Lmnatm1Stw/Lmnatm1Stw
Zmpste24tm1Sgy/Zmpste24tm1Sgy
involves: 129S1/Sv * 129S4/SvJae * C57BL/6 MGI:3620914


Genotype
MGI:2177931
hm1
Allelic
Composition
Lmnatm1Stw/Lmnatm1Stw
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all die by 8 weeks of age

cellular
• 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
• at 4 weeks, mean body weight is about 50% of wild-type and heterozygous littermates
• growth retardation is seen by 2-3 weeks of age and growth ceases by 4 weeks of age

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

behavior/neurological
• at 3-4 weeks mice have reduced grip strength
• at 3-4 weeks mice display a stiff walking posture with splayed hind legs

skeleton
• progressive kyphoscoliosis starting around 3-4 weeks of age

adipose tissue
• absence of white fat

nervous system
• sciatic nerve axon density is reduced, axon diameter is increased, and nonmyelinated axons are present
• sciatic nerve axon density is reduced, axon diameter is increased, and nonmyelinated axons are presen
• nonmyelinated axons are present in the sciatic nerve

immune system
• probably secondary to physiological stress
• probably secondary to physiological stress

hematopoietic system
• probably secondary to physiological stress
• probably secondary to physiological stress

endocrine/exocrine glands
• probably secondary to physiological stress




Genotype
MGI:3620910
hm2
Allelic
Composition
Lmnatm1Stw/Lmnatm1Stw
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die by 4-6 weeks of age

growth/size/body

muscle

reproductive system
• spermatids and spermatozoa are largely absent
• 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

endocrine/exocrine glands




Genotype
MGI:3620916
hm3
Allelic
Composition
Lmnatm1Stw/Lmnatm1Stw
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• at 4 weeks serum glucose levels are decreased however insulin levels are only slightly and not significantly decreased
• only significant in 4 week old females although levels in males also tend to be lower

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Lipodystrophy, Familial Partial, Type 2; FPLD2 151660 J:75101




Genotype
MGI:3620915
ht4
Allelic
Composition
Lmnatm1Stw/Lmna+
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• in many MEFs, nuclei appear elongated but distribution of nuclear envelope proteins is normal except for increased levels of cytoplasmic emerin




Genotype
MGI:3620917
ht5
Allelic
Composition
Lmnatm1Stw/Lmna+
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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
• on a high fat diet, females develop increased insulin but not glucose levels

adipose tissue
N
• no signs of lipoatrophy are seen

liver/biliary system
N
• liver morphology is normal

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Lipodystrophy, Familial Partial, Type 2; FPLD2 151660 J:75101




Genotype
MGI:3817521
ht6
Allelic
Composition
Lmnatm1Lgf/Lmnatm1Stw
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Lgf mutation (0 available); any Lmna mutation (64 available)
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die between 10 and 14 weeks of age

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




Genotype
MGI:4840108
ht7
Allelic
Composition
Lmnatm1Stw/Lmnatm7Lgf
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
Lmnatm7Lgf mutation (0 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular




Genotype
MGI:3620906
ht8
Allelic
Composition
Lmnatm1Stw/Lmnatm2Lgf
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
Lmnatm2Lgf mutation (0 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable and fertile with normal growth and muscle strength




Genotype
MGI:3620911
cx9
Allelic
Composition
Lmnatm1Stw/Lmna+
Zmpste24tm1Sgy/Zmpste24tm1Sgy
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
Zmpste24tm1Sgy mutation (2 available); any Zmpste24 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• no bone fractures or other skeletal abnormalities are seen

cellular
N
• normal nuclear envelope morphology in MEFs

growth/size/body
N
• improved growth compared to mice homozygous for Zmpste24tm1Sgy only

muscle
N
• muscle strength is similar to wild-type




Genotype
MGI:3620913
cx10
Allelic
Composition
Lmnatm1Stw/Lmnatm1Stw
Zmpste24tm1Sgy/Zmpste24+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
Zmpste24tm1Sgy mutation (2 available); any Zmpste24 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die by 4-6 weeks of age

growth/size/body

muscle




Genotype
MGI:3620914
cx11
Allelic
Composition
Lmnatm1Stw/Lmnatm1Stw
Zmpste24tm1Sgy/Zmpste24tm1Sgy
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1Stw mutation (1 available); any Lmna mutation (64 available)
Zmpste24tm1Sgy mutation (2 available); any Zmpste24 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die by 4-6 weeks of age

growth/size/body

muscle





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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory