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Phenotypes Associated with This Genotype
Genotype
MGI:4459466
Allelic
Composition
LmnaDhe/Lmna+
Genetic
Background
B6(D2)-LmnaDhe/TyGrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
LmnaDhe mutation (1 available); any Lmna mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

LmnaDhe/Lmna+ mice (right) have a sparse and gray coat, small size and small pinnae

mortality/aging
• coat turns gray around 12 weeks of age (J:160175)
• however, lifespan is similar to controls (J:160175)
• coat turns gray around 12 weeks of age (J:160175)
• however, lifespan is similar to controls (J:160175)

craniofacial
• patent sutures, in all cranial vault and facial sutures including the premaxillary/maxillary sutures (J:160175)
• patent sutures, in all cranial vault and facial sutures including the premaxillary/maxillary sutures (J:160175)
• at six weeks the parietal and interparietal bones do not overlap and the suture tissue is hypoplastic, forming a much looser, thinner connection of the plates (J:160175)
• at six weeks the parietal and interparietal bones do not overlap and the suture tissue is hypoplastic, forming a much looser, thinner connection of the plates (J:160175)
• suture tissue is hypoplastic, forming a much looser, thinner connection of the plates (J:160175)
• suture tissue is hypoplastic, forming a much looser, thinner connection of the plates (J:160175)
• suture tissue is hypoplastic, forming a much looser, thinner connection of the (J:160175)
• suture tissue is hypoplastic, forming a much looser, thinner connection of the (J:160175)
• at 1 week of age, there is a gap between the the edges of the parietal bones and these bones are connected by a much thinner band of connective tissue (J:160175)
• at 1 week of age, there is a gap between the the edges of the parietal bones and these bones are connected by a much thinner band of connective tissue (J:160175)
• shorter, wider skull (J:160175)
• shorter, wider skull (J:160175)
• in keeping with the reduction in body size (J:160175)
• in keeping with the reduction in body size (J:160175)
• bone growth deficiency (J:160175)
• bone growth deficiency (J:160175)
• underdeveloped lower jaw, inferior brachygnathism (J:160175)
• underdeveloped lower jaw, inferior brachygnathism (J:160175)
• superior brachygnathism (J:160175)
• superior brachygnathism (J:160175)
• maxillary incisor and the diastema (the maxillary arch) are both abnormally short in the mutant (J:160175)
• maxillary incisor and the diastema (the maxillary arch) are both abnormally short in the mutant (J:160175)
• decreased nose length (J:160175)
• decreased nose length (J:160175)
• short pinnae (J:160175)
• short pinnae (J:160175)

hearing/vestibular/ear
• short pinnae (J:160175)
• short pinnae (J:160175)

skeleton
• patent sutures, in all cranial vault and facial sutures including the premaxillary/maxillary sutures (J:160175)
• patent sutures, in all cranial vault and facial sutures including the premaxillary/maxillary sutures (J:160175)
• at six weeks the parietal and interparietal bones do not overlap and the suture tissue is hypoplastic, forming a much looser, thinner connection of the plates (J:160175)
• at six weeks the parietal and interparietal bones do not overlap and the suture tissue is hypoplastic, forming a much looser, thinner connection of the plates (J:160175)
• suture tissue is hypoplastic, forming a much looser, thinner connection of the plates (J:160175)
• suture tissue is hypoplastic, forming a much looser, thinner connection of the plates (J:160175)
• suture tissue is hypoplastic, forming a much looser, thinner connection of the (J:160175)
• suture tissue is hypoplastic, forming a much looser, thinner connection of the (J:160175)
• at 1 week of age, there is a gap between the the edges of the parietal bones and these bones are connected by a much thinner band of connective tissue (J:160175)
• at 1 week of age, there is a gap between the the edges of the parietal bones and these bones are connected by a much thinner band of connective tissue (J:160175)
• shorter, wider skull (J:160175)
• shorter, wider skull (J:160175)
• in keeping with the reduction in body size (J:160175)
• in keeping with the reduction in body size (J:160175)
• bone growth deficiency (J:160175)
• bone growth deficiency (J:160175)
• underdeveloped lower jaw, inferior brachygnathism (J:160175)
• underdeveloped lower jaw, inferior brachygnathism (J:160175)
• superior brachygnathism (J:160175)
• superior brachygnathism (J:160175)
• of skull (J:160175)
• of skull (J:160175)
• low bone mineral density of skull and whole body (J:160175)
• low bone mineral density of skull and whole body (J:160175)
• skull mineralization defects (J:160175)
• skull mineralization defects (J:160175)

adipose tissue
• in males (J:160175)
• in males (J:160175)

pigmentation
• turns gray around 12 weeks of age (J:160175)
• turns gray around 12 weeks of age (J:160175)

cellular
• nuclei appear larger and nuclear volume is greater than in wild-type mice (J:171665)
• nuclei appear larger and nuclear volume is greater than in wild-type mice (J:171665)
• fibroblasts exhibit extensive aneuploidy, with a higher fraction of cells greater than 4C and chromosome numbers ranging from 38 to 104 chromosomes per nucleus (J:171665)
• fibroblasts exhibit extensive aneuploidy, with a higher fraction of cells greater than 4C and chromosome numbers ranging from 38 to 104 chromosomes per nucleus (J:171665)
• grossly abnormal nuclear lamina of cultured primary calvarial osteoblasts with various numbers of nuclear lamina blebs, discreet balloon-like outpocketings of the nuclear envelope (J:160175)
• grossly abnormal nuclear lamina of cultured primary calvarial osteoblasts with various numbers of nuclear lamina blebs, discreet balloon-like outpocketings of the nuclear envelope (J:160175)
• skin fibroblasts exhibit aberrant nuclear lamina morphology, with nuclear membranes showing large blebs and lobulations (J:171665)
• patches of irregularity in the normal criss-cross pattern of LMNA and LMNB meshworks are seen (J:171665)
• skin fibroblasts exhibit aberrant nuclear lamina morphology, with nuclear membranes showing large blebs and lobulations (J:171665)
• patches of irregularity in the normal criss-cross pattern of LMNA and LMNB meshworks are seen (J:171665)
• increase in DNA damage in interphase (J:171665)
• increase in DNA damage in interphase (J:171665)
• mutant cell cultures have an increased proportion of cells in anaphase compared to normal cells (J:171665)
• mutant cell cultures have an increased proportion of cells in anaphase compared to normal cells (J:171665)
• mitotic defects such as aneuploidy, lagging chromosomes, and anaphase bridges associated with low levels of activated RB1 and CAPD3 (J:171665)
• LMNA expression and assembly at the nuclear lamina is perturbed during interphase and mitosis (J:171665)
• fibroblasts exhibit mitotic chromosome cohesion defects (J:171665)
• mitotic defects such as aneuploidy, lagging chromosomes, and anaphase bridges associated with low levels of activated RB1 and CAPD3 (J:171665)
• LMNA expression and assembly at the nuclear lamina is perturbed during interphase and mitosis (J:171665)
• fibroblasts exhibit mitotic chromosome cohesion defects (J:171665)
• defects in mitotic spindle checkpoint (J:171665)
• defects in mitotic spindle checkpoint (J:171665)
• fibroblasts grow significantly slower that wild-type fibroblasts (J:171665)
• fibroblasts grow significantly slower that wild-type fibroblasts (J:171665)

growth/size/body
• in males (J:160175)
• in males (J:160175)
• maxillary incisor and the diastema (the maxillary arch) are both abnormally short in the mutant (J:160175)
• maxillary incisor and the diastema (the maxillary arch) are both abnormally short in the mutant (J:160175)
• decreased nose length (J:160175)
• decreased nose length (J:160175)
• short pinnae (J:160175)
• short pinnae (J:160175)

reproductive system
(J:160175)
(J:160175)

vision/eye

integument
• turns gray around 12 weeks of age (J:160175)
• turns gray around 12 weeks of age (J:160175)
• scruffy coat (J:160175)
• scruffy coat (J:160175)

homeostasis/metabolism
• increase in DNA damage in interphase (J:171665)
• increase in DNA damage in interphase (J:171665)

Mouse Models of Human Disease
OMIM ID Ref(s)
Hutchinson-Gilford Progeria Syndrome; HGPS 176670 J:171665


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory