mortality/aging
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• median lifespan is 93 weeks compared to 115 weeks for wild-type littermates, with maximal lifespan of 121 weeks compared to 170 weeks for wild-type
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• signs of early aging such as absence of vigor, changes in coat appearance, thinning hair, reduced body size, kyphosis and frequent periophthalmic lesions by 18 months of age compared to wild-type littermates
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growth/size/body
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• starting at 2 months of age, mice begin to display visible bulges or protrusions at several sites; some are lateral bulges (uni- or bilateral) near the hind legs, rear bulges with or without rectal prolapse in anorectal area, or protrusions in chest area; all mutants develop at least one form or hernia or protrusion in their lifetimes, with individual animals frequently having two or more forms of hernia
• Background Sensitivity: herniation is more severe than on 129 x BALB/c background
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• lateral bulges consist of fat tissue and/or other abdominal contents such as intestines; all lateral bulges result from herniation through myopectineal orifice in inguinal area of abdominal wall
• onset of hernia/protrusion is from 2 months to >1 year
• Background Sensitivity: herniation is more severe than on 129 x BALB/c background
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• herniation through myopectineal orifice occurs in some mutants starting at 2 months
• anorectal bulges in males are indirect iguinal hernias; bulges are unilateral or asymmetrical initially, and small bulges usually contain only fat but larger bulges can contain fat and abdominal contents
• Background Sensitivity: herniation is more severe than on 129 x BALB/c background
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• exhibited at 18-24 months
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digestive/alimentary system
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• is observed in some mice displaying bulges in anorectal area; rectal prolapse associated with anorectal bulges is more frequently observed in females
• Background Sensitivity: herniation is more severe than on 129 x BALB/c background
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reproductive system
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• rear bulges in females contain pelvic organs such as uterus, bladder, and rectum, thus resulting from pelvic organ prolapse; vesical ligaments of pelvic fascia are disrupted
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• testis atrophy and degeneration are observed in males at 18-24 months
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• uterine atrophy and degeneration are observed in females at 18-24 months
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• many homozygotes are sterile; 11 of 27 homozygotes were shown to be sterile
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• breeding pairs containing an Efemp1-null animal produce maximum of 4 litters compared to up to 17 litters produced by pairs of wild-type or pairs containing heterozygous mice
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• litters from breeding pairs containing an Efemp1-null animal have a maximum of 5 pups compared to up to 16 pups from pairs of wild-type or pairs containing heterozygous mice
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adipose tissue
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• thickness of subcutaneous adipose tissue at 18-24 months is significantly reduced compared to wild-type; at 24 months, mutants have almost no subcutaneous adipose tissue
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• visible at autopsy at 18-24 months
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skeleton
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• male and female mice develop xiphoid process protrusions
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• some mice have severely curved spines at 18-24 months
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vision/eye
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N |
• no macular degeneration-associated defects are observed by 18 months of age
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• periophthalmic lesions are frequently seen by 18 months
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muscle
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• observed in older animals; calf muscle weights at 24 months are reduced >30% compared to wild-type
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liver/biliary system
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• in older mice (18-24 months)
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• liver degeneration and atrophy are observed in mice at 18-24 months
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renal/urinary system
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• in older mice (18-24 months)
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• kidney atrophy and degeneration are observed at 18-24 months
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hematopoietic system
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• spleen atrophy and degeneration are observed at 18-24 months
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• in older mice (18-24 months)
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immune system
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• spleen atrophy and degeneration are observed at 18-24 months
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• in older mice (18-24 months)
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endocrine/exocrine glands
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• testis atrophy and degeneration are observed in males at 18-24 months
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homeostasis/metabolism
integument
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• thickness of subcutaneous adipose tissue at 18-24 months is significantly reduced compared to wild-type; at 24 months, mutants have almost no subcutaneous adipose tissue
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• by 18 months, some mice display loss of hair glossiness
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• at 19 months, hair regrowth on shaved dorsal areas is very limited compared to wild-type mice by 25 days after shaving; mean hair regrowth is reduced by >50%
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• thinning hair on back is observed in some mice by 18 months
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• by 18 months, hair of some mice is coarse
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• fascia membranes at sites of hernias or protrusions are disrupted; membranes in mutants exhibit nearly complete loss of elastic fiber content relative to wild-type
• Background Sensitivity: reduction is more pronounced on 129 x C57Bl/6 background than on 129 x BALB/c background
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• by several months of age, skin of some mutants is subtly looser than wild-type littermates
• by 12 months, obvious difference in skin appearance is observed, and difference is consistent by 18 months of age
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Analysis Tools