Phenotypes associated with this allele

• Allele Symbol: Efemp1^tm2Lmar
• Allele Name: targeted mutation 2, Lihua Y Marmorstein
• Allele ID: MGI:3776015
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efemp1^tm2Lmar/Efemp1^tm2Lmar	involves: 129X1/SvJ * BALB/c	MGI:3807917
hm2	Efemp1^tm2Lmar/Efemp1^tm2Lmar	involves: 129X1/SvJ * C57BL/6	MGI:3807918

Genotype
MGI:3807917

hm1

• Allelic Composition: Efemp1^tm2Lmar/Efemp1^tm2Lmar
• Genetic Background: involves: 129X1/SvJ * BALB/c

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

digestive/alimentary system

rectal prolapse ( J:132043 )

• Background Sensitivity: herniation with rectal prolapse is less severe than on 129 x C57BL/6 background

herniated intestine ( J:132043 )

growth/size/body

abnormal body wall morphology ( J:132043 )

• mice display visible bulges or protrusions at several sites

• herniation is less severe than on 129 x C57BL/6 background

herniated abdominal wall ( J:132043 )

• Background Sensitivity: herniation is less severe than on 129 x C57BL/6 background

inguinal hernia ( J:132043 )

• herniation through myopectineal orifice occurs

• Background Sensitivity: herniation is less severe than on 129 x C57BL/6 background

integument

abnormal cutaneous elastic fiber morphology ( J:132043 )

• fascia membranes at sites of hernias or protrusions are disrupted; membranes in mutants exhibit marked reduction in elastic fiber content such that only faint, fine elastic fibers visible

• Background Sensitivity: reduction is more pronounced on 129 x C57Bl/6 background than on 129 x BALB/c background

Genotype
MGI:3807918

hm2

• Allelic Composition: Efemp1^tm2Lmar/Efemp1^tm2Lmar
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

premature death ( J:132043 )

• 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

premature aging ( J:132043 )

• 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

growth/size/body

abnormal body wall morphology ( J:132043 )

• 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

herniated abdominal wall ( J:132043 )

• 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

inguinal hernia ( J:132043 )

• 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

decreased body size ( J:132043 )

• exhibited at 18-24 months

digestive/alimentary system

rectal prolapse ( J:132043 )

• 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

herniated intestine ( J:132043 )

reproductive system

abnormal reproductive system morphology ( J:132043 )

• 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

abnormal testis morphology ( J:132043 )

♂ • testis atrophy and degeneration are observed in males at 18-24 months

abnormal uterus morphology ( J:132043 )

♀ • uterine atrophy and degeneration are observed in females at 18-24 months

infertility ( J:132043 )

• many homozygotes are sterile; 11 of 27 homozygotes were shown to be sterile

reduced fertility ( J:132043 )

• 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

decreased litter size ( J:132043 )

• 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

adipose tissue

decreased subcutaneous adipose tissue amount ( J:132043 )

• 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

decreased total body fat amount ( J:132043 )

• visible at autopsy at 18-24 months

skeleton

abnormal xiphoid process morphology ( J:132043 )

• male and female mice develop xiphoid process protrusions

kyphosis ( J:132043 )

• some mice have severely curved spines at 18-24 months

decreased bone mineral density ( J:132043 )

• at 18-24 months

osteoporosis ( J:132043 )

• at 18-24 months

vision/eye

vision/eye phenotype ( J:132043 )

N • no macular degeneration-associated defects are observed by 18 months of age

abnormal eye morphology ( J:132043 )

• periophthalmic lesions are frequently seen by 18 months

muscle

decreased skeletal muscle weight ( J:132043 )

• observed in older animals; calf muscle weights at 24 months are reduced >30% compared to wild-type

liver/biliary system

decreased liver weight ( J:132043 )

• in older mice (18-24 months)

liver degeneration ( J:132043 )

• liver degeneration and atrophy are observed in mice at 18-24 months

renal/urinary system

decreased kidney weight ( J:132043 )

• in older mice (18-24 months)

kidney atrophy ( J:132043 )

• kidney atrophy and degeneration are observed at 18-24 months

hematopoietic system

abnormal spleen morphology ( J:132043 )

• spleen atrophy and degeneration are observed at 18-24 months

decreased spleen weight ( J:132043 )

• in older mice (18-24 months)

immune system

abnormal spleen morphology ( J:132043 )

• spleen atrophy and degeneration are observed at 18-24 months

decreased spleen weight ( J:132043 )

• in older mice (18-24 months)

endocrine/exocrine glands

abnormal testis morphology ( J:132043 )

♂ • testis atrophy and degeneration are observed in males at 18-24 months

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:132043 )

N • wound healing is normal in mutants at 3 or 24 months

integument

decreased subcutaneous adipose tissue amount ( J:132043 )

• 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

abnormal coat appearance ( J:132043 )

• by 18 months, some mice display loss of hair glossiness

abnormal hair growth ( J:132043 )

• 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%

premature hair loss ( J:132043 )

• thinning hair on back is observed in some mice by 18 months

coarse hair ( J:132043 )

• by 18 months, hair of some mice is coarse

abnormal cutaneous elastic fiber morphology ( J:132043 )

• 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

loose skin ( J:132043 )

• 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