- motor neuron degeneration / MGI
- abnormal neuron morphology / MGI
- decreased neuron apoptosis / MGI
- absent neurocranium / MGI
- absent vomer bone / MGI
- absent ethmoid bone / MGI
- impaired ossification of basisphenoid bone / MGI
- midline facial cleft / MGI
- interdigital webbing / MGI
- abnormal embryonic neuroepithelial layer differentiation / MGI
- abnormal cortical marginal zone morphology / MGI
- choroid plexus hyperplasia / MGI
- diencephalon hyperplasia / MGI
- hypothalamus hyperplasia / MGI
- midbrain hyperplasia / MGI
- abnormal brain development / MGI
- exencephaly / MGI
- abnormal folding of telencephalic vesicles / MGI
- small embryonic telencephalon / MGI
- persistence of hyaloid vascular system / MGI
- small lens / MGI
- abnormal lens polarity / MGI
- retina hyperplasia / MGI
- hydroencephaly / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal craniofacial bone morphology / MGI
- abnormal brain morphology / MGI
- nervous system phenotype / MGI
- abnormal neuron physiology / MGI
- persistence of medial edge epithelium during palatal shelf fusion / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- decreased fibroblast apoptosis / MGI
- increased neuron apoptosis / MGI
- abnormal apoptosis / MGI
NMRI.129-Apaf1Gt(IRESBetageo)XIX18Pgr/Cnrm
Status | Available to order |
EMMA ID | EM:01017 |
International strain name | NMRI.129-Apaf1Gt(IRESBetageo)XIX18Pgr/Cnrm |
Alternative name | Apaf-1/XIX-18 |
Strain type | Gene-trap |
Allele/Transgene symbol | Apaf1Gt(IRESBetageo)XIX18Pgr, |
Gene/Transgene symbol | Apaf1 |
Information from provider
Provider | Peter Gruss |
Provider affiliation | Max Planck Inst. Biophysical Chemistry |
Genetic information | IRESpGEO insertion in the Apaf1 gene at codon encoding amino-acid 1018 of the APAF1 protein. |
Phenotypic information | Heterozygous mice: normal size, healthy. Homozygous mice: lethal at E16.5: cranio-facial alterations, persistence of inter-digital webs, abnormal eye development. Apaf1 is a candidate gene for Noonan syndrome. |
Breeding history | Mutants were backcrossed with wild-type NMRI to 6 generations. |
References |
|
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
MGI phenotypes (allele matching)
Literature references
- Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development.;Cecconi F, Alvarez-Bolado G, Meyer B I, Roth K A, Gruss P, ;1998;Cell;94;727-37; 9753320
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).