MGI phenotypes (allele matching)
STOCK Smad2tm4(SMADH3)Rob/H
| Status | Available to order |
| EMMA ID | EM:02508 |
| Citation information | RRID:IMSR_EM:02508 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Smad2tm4(SMADH3)Rob/H |
| Alternative name | Smad2 T3 |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Smad2tm4(SMADH3)Rob |
| Gene/Transgene symbol | Smad2 |
Information from provider
| Provider | Elizabeth Robertson |
| Provider affiliation | Sir William Dunn School of Pathology, University of Oxford |
| Genetic information | Knock-in allele of human FLAG tagged Smad3 cDNA into exon1 of Smad2 locus. Resulting mice exclusively express Smad3 and do not express any Smad2 endogenously. |
| Phenotypic information | Approximately 50% of homozygotes are embryonic lethal at 15.5 dpc. The remainder are viable as adults. |
| Breeding history | Backcrossed to 129/SvEv. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial thoracic aortic aneurysm and aortic dissection / Orphanet_91387
MGI phenotypes (gene matching)
- absent mandible / MGI
- abnormal heart development / MGI
- abnormal heart tube morphology / MGI
- abnormal craniofacial morphology / MGI
- microcephaly / MGI
- abnormal mandible morphology / MGI
- mandible hypoplasia / MGI
- exencephaly / MGI
- absent notochord / MGI
- abnormal eye development / MGI
- absent mesoderm / MGI
- failure of primitive streak formation / MGI
- failure to gastrulate / MGI
- decreased embryo size / MGI
- abnormal proximal-distal axis patterning / MGI
- abnormal extraembryonic endoderm formation / MGI
- embryonic growth arrest / MGI
- abnormal developmental patterning / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal extraembryonic tissue morphology / MGI
- abnormal eye morphology / MGI
- no abnormal phenotype detected / MGI
- absent extraembryonic ectoderm / MGI
- abnormal chorion morphology / MGI
- no phenotypic analysis / MGI
- abnormal egg cylinder morphology / MGI
- absent allantois / MGI
- abnormal forebrain development / MGI
- abnormal embryonic epiblast morphology / MGI
- abnormal embryonic-extraembryonic boundary morphology / MGI
- embryonic growth retardation / MGI
- abnormal dorsal aorta morphology / MGI
- absent amnion / MGI
- abnormal ectoplacental cone morphology / MGI
- holoprosencephaly / MGI
- abnormal rostral-caudal axis patterning / MGI
- abnormal Meckel's cartilage morphology / MGI
- abnormal hindbrain development / MGI
- embryonic lethality during organogenesis / MGI
- absent primitive node / MGI
- absent chorion / MGI
- failure of chorioallantoic fusion / MGI
- neonatal lethality, incomplete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- abnormal visceral endoderm morphology / MGI
- abnormal proamniotic cavity morphology / MGI
- absent foregut / MGI
- rostral body truncation / MGI
- absent optic placodes / MGI
- abnormal primitive streak elongation / MGI
- absent head fold / MGI
- absent endoderm / MGI
- absent ectoderm / MGI
Literature references
- Mice exclusively expressing the short isoform of Smad2 develop normally and are viable and fertile.;Dunn N Ray, Koonce Chad H, Anderson Dorian C, Islam Ayesha, Bikoff Elizabeth K, Robertson Elizabeth J, ;2005;Genes & development;19;152-63; 15630024