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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Efemp2tm1Dgen
targeted mutation 1, Deltagen
MGI:3604551
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Efemp2tm1Dgen/Efemp2tm1Dgen involves: 129P2/OlaHsd * C57BL/6 MGI:3606611
ht2
Efemp2tm1Dgen/Efemp2+ involves: 129P2/OlaHsd * C57BL/6 MGI:3606612


Genotype
MGI:3606611
hm1
Allelic
Composition
Efemp2tm1Dgen/Efemp2tm1Dgen
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efemp2tm1Dgen mutation (1 available); any Efemp2 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die during birth with only 10% surviving to P1 and none surviving to P2
• however, no loss of mice is seen from E11.5 to E18.5
• homozygous embryos die around E12.5, with embryos appearing partially abnormal and/or partially resorbed by E12.5

cardiovascular system
• tortuous with variable irregularities including narrowing dilation, aneurysms, and ruptures
• defects are most severe in the aorta and other large arteries but occur in others as well
• at E15.5 the aorta is noticeably tortuous and irregular and this becomes more severe with age
• at E12.5 the outer diameter is reduced to 1/2 to 2/3 of wild-type; however, the number of cells in the wall is not increased compared to wild-type
• no continuous elatic lamina is seen at any age from E12.5 to P1 (J:106902)
• at E14.5 irregular elastin aggregates are seen and these become larger and more numerous with age (J:106902)
• at P1 decreased desmosine levels indicate a 94% decrease in elastin cross linking (J:106902)
• the aortic elastic laminae is complete disarranged unlike in wild-type mice (J:154659)
• the elastogenesis is abolished unlike in wild-type mice (J:154659)
• at E12.5 aortic smooth muscle cells appear rounder and less stretched although this becomes less obvious at E13.5 and later ages
• the walls are about twice as thick as in wild-type mice
• uniform narrowing (stenosis) of the descending aorta in mutant embryos at embryonic day 12.5 (E12.5)
• arterial aneurysms
• resulting from ruptured arteries

respiratory system
• over expanded with markedly enlarged distal airspaces
• at P1 no fine elastic fibers are detected and decreased desmosine levels indicate an 88% decrease in elastin cross linking

muscle
• at E12.5 aortic smooth muscle cells appear rounder and less stretched although this becomes less obvious at E13.5 and later ages

integument
• at P1 no fine elastic fibers are detected in the hypodermal connective tissue; however, no gross changes in skin condition are seen




Genotype
MGI:3606612
ht2
Allelic
Composition
Efemp2tm1Dgen/Efemp2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efemp2tm1Dgen mutation (1 available); any Efemp2 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Efemp2tm1Dgen/Efemp2+ mice exhibit abnormal aorta morphology

cardiovascular system
• aortas of heterozygotes housed in standard cages exhibit localized regions of disorganized extracellular matrix and collagen fibers between 10-15% of the medial smooth muscle cell junctions
• heterozygotes housed in enriched cages show fewer disorganized regions in the aorta than in standard cages

normal phenotype
• no significant differences in physical examinations, necropsy including body length, body weight, and organ weight measurements, histological examination of tissues and organs, bone marrow section evaluations, complete blood counts and differentials, clinical chemistry panels, densitometry, behavior tests, fertility, or aging studies detected in the heterozygous mutant mice when compared with age- and gender-matched wild-type control mice





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory