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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
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Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation ?+N1p (05-FEB-06) Description
This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen.Development
The construct insert is reported to be "SA-IRES-lacZ-Neo555G/Kan." Upon arrival at The Jackson Laboratory, these mice had been backcrossed at least 6 generations to C57BL/6 mice.
Related Strains
lacZ Expression Strains
View lacZ Expression Strains (186 strains)
Additional Web Information
Fluorescent Proteins/lacZ Systems
Phenotype
Phenotype Information
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Efemp2tm1Dgen/Efemp2+
involves: 129P2/OlaHsd * C57BL/6
- cardiovascular system phenotype
- abnormal aorta morphology (MGI Ref ID J:129341)
- 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 abnormal phenotype detected (MGI Ref ID J:101679)
- 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
Efemp2tm1Dgen/Efemp2tm1Dgen
involves: 129P2/OlaHsd * C57BL/6
- lethality-prenatal/perinatal
- embryonic lethality during organogenesis (MGI Ref ID J:101679)
- homozygous embryos die around E12.5, with embryos appearing partially abnormal and/or partially resorbed by E12.5
- perinatal lethality (MGI Ref ID J:106902)
- 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
- cardiovascular system phenotype
- abnormal artery morphology (MGI Ref ID J:106902)
- 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
- abnormal aorta morphology (MGI Ref ID J:106902)
- at E12.5 the outer diameter is reduced to 1/2 to 2/3 of wild-type and the walls are about twice as thick as in wild-type mice; however the number of cells in the wall is not increased compared to wild-type
- at E15.5 the aorta is noticeably tortuous and irregular and this becomes more severe with age
- abnormal aorta elastic fiber morphology (MGI Ref ID J:106902)
- no continuous elatic lamina is seen at any age from E12.5 to P1
- at E14.5 irregular elastin aggregates are seen and these become larger and more numerous with age
- at P1 decreased desmosine levels indicate a 94% decrease in elastin cross linking
- arterial stenosis (MGI Ref ID J:106902)
- abnormal vascular smooth muscle morphology (MGI Ref ID J:106902)
- at E12.5 aortic smooth muscle cells appear rounder and less stretched although this becomes less obvious at E13.5 and later ages
- hemorrhage (MGI Ref ID J:106902)
- resulting from ruptured arteries
- respiratory system phenotype
- abnormal lung morphology (MGI Ref ID J:106902)
- over expanded with markedly enlarged distal airspaces
- abnormal pulmonary elastic fiber morphology (MGI Ref ID J:106902)
- at P1 no fine elastic fibers are detected and decreased desmosine levels indicate an 88% decrease in elastin cross linking
- skin/coat/nails phenotype
- abnormal hypodermis morphology (MGI Ref ID J:106902)
- at P1 no fine elastic fibers are detected in the hypodermal connective tissue; however, no gross changes in skin condition are seen
- muscle phenotype
- abnormal vascular smooth muscle morphology (MGI Ref ID J:106902)
- at E12.5 aortic smooth muscle cells appear rounder and less stretched although this becomes less obvious at E13.5 and later ages
This mouse can be used to support research in many areas including:
Developmental Biology Research
Research Tools
lacZ Expression
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Efemp2tm1Dgen | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Deltagen | ||
| Allele Type | Targeted (Reporter) | ||
| Common Name(s) | fibulin-4-; | ||
| Strain of Origin | 129P2/OlaHsd | ||
| ES Cell Line Name | E14 | ||
| ES Cell Line Strain | 129P2/OlaHsd | ||
| Site of Expression | lacZ is detected in most tissues examined: brain, spinal cord, eyes, Harderian glands, thymus, spleen, lymph nodes, aorta, heart, lung, liver, gallbladder, pancreas, kidney, urinary bladder, trachea, larynx, esophagus, thyroid gland, pituitary gland, adrenal glands, salivary glands, tongue, skeletal muscle, skin, male and female reproductive systems. | ||
| Gene Symbol and Name | Efemp2, epidermal growth factor-containing fibulin-like extracellular matrix protein 2 | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 0610011K11Rik; FBLN4; MBP1; RIKEN cDNA 0610011K11 gene; UPH1; fibulin 4; fibulin-4; | ||
| Molecular Note | A bacterial lacZ gene was inserted into the gene such that the endogenous gene promoter drives expression of beta-galactosidase. While RT-PCR analysis detects a gene transcript in all tissues tested, strong beta-galactosidase expression from this alleleis detectable in brain, spinal cord, eyes, Harderian glands, thymus, spleen, lymph nodes, aorta, heart, lung, liver, gallbladder, pancreas, kidney, urinary bladder, trachea, larynx, esophagus, thyroid gland, pituitary gland, adrenal glands, salivary glands, tongue, skeletal muscle, skin, male and female reproductive systems. In many tissues lacZ is expressed in smooth muscle cells. | ||
Genotyping
Genotyping Information
Genotyping Protocols
Efemp2tm1Dgen, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Efemp2tm1Dgen relatedCudilo E; Al Naemi H; Marmorstein L; Baldwin AL. 2007. Knockout mice: is it just genetics? Effect of enriched housing on fibulin-4(+/-) mice. PLoS ONE 2(2):e229. [PubMed: 17311093] [MGI Ref ID J:129341]
Deltagen, Inc.. 2005. NIH initiative supporting placement of Deltagen, Inc. mice into public repositories MGI Direct Data Submission :. [MGI Ref ID J:101679]
McLaughlin PJ; Chen Q; Horiguchi M; Starcher BC; Stanton JB; Broekelmann TJ; Marmorstein AD; McKay B; Mecham R; Nakamura T; Marmorstein LY. 2006. Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. Mol Cell Biol 26(5):1700-9. [PubMed: 16478991] [MGI Ref ID J:106902]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Payment Terms and Conditions
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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