Registered for phenotyping at IMPC
Phenotyping is planned for a knockout strain of this gene but data is not currently available.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is planned for a knockout strain of this gene but data is not currently available.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Spint2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies | OMIM:270420 |
The table below shows human diseases predicted to be associated to Spint2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 | Neural tube defect | OMIM:615041 | |
Neural Tube Defects, Folate-Sensitive | Spinal dysraphism | OMIM:601634 | |
Spina Bifida-Hypospadias Syndrome | Spinal dysraphism, Spina bifida | ORPHA:3176 | |
Myelopathy, Htlv-1-Associated | Myelopathy | OMIM:159580 | |
Anencephaly 1 | Anencephaly, Spina bifida | OMIM:206500 | |
Joubert Syndrome 15 | Exencephaly | OMIM:614464 | |
Isolated Anencephaly/Exencephaly | Anencephaly | ORPHA:1048 | |
Fryns Microphthalmia Syndrome | Neural tube defect | OMIM:600776 | |
Craniorachischisis | Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly | ORPHA:63260 | |
Blepharocheilodontic Syndrome 1 | Neural tube defect | OMIM:119580 | |
Isolated Posterior Meningocele | Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neural tube defect | ORPHA:268810 | |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome | Encephalocele, Exencephaly | ORPHA:2211 | |
Aprosencephaly Syndrome | Aprosencephaly, Anencephaly | OMIM:207770 | |
Alg3-Cdg | Neural tube defect | ORPHA:79321 | |
Schinzel-Giedion Syndrome | Umbilical hernia, Neural tube defect | ORPHA:798 | |
Semilobar Holoprosencephaly | Neural tube defect, Hydrocephalus | ORPHA:220386 | |
Alobar Holoprosencephaly | Neural tube defect, Hydrocephalus | ORPHA:93925 | |
Midline Interhemispheric Variant Of Holoprosencephaly | Neural tube defect, Hydrocephalus | ORPHA:93926 | |
Lobar Holoprosencephaly | Neural tube defect, Hydrocephalus | ORPHA:93924 | |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies | OMIM:270420 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
MGI Allele | Allele Type | Produced |
---|---|---|
Spint2tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Spint2tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Spint2em1(IMPC)Bay | Exon Deletion | Mice |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter