NMRI.129-Apaf1Gt(IRESBetageo)XIX18Pgr/Cnrm

Status

Under development - register interest

EMMA IDEM:01017
Citation informationRRID:IMSR_EM:01017 

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International strain nameNMRI.129-Apaf1Gt(IRESBetageo)XIX18Pgr/Cnrm
Alternative nameApaf-1/XIX-18
Strain typeGene-trap
Allele/Transgene symbolApaf1Gt(IRESBetageo)XIX18Pgr
Gene/Transgene symbolApaf1

Information from provider

ProviderPeter Gruss
Provider affiliationMax Planck Inst. Biophysical Chemistry
Genetic informationIRESpGEO insertion in the Apaf1 gene at codon encoding amino-acid 1018 of the APAF1 protein.
Phenotypic informationHeterozygous 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 historyMutants were backcrossed with wild-type NMRI to 6 generations.
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

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

MGI phenotypes (allele matching)
  • 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
MGI phenotypes (gene matching)
  • abnormal neurocranium morphology / MGI
  • absent neurocranium / MGI
  • absent vomer bone / MGI
  • absent ethmoid bone / MGI
  • impaired ossification of basisphenoid bone / MGI
  • abnormal frontal bone morphology / MGI
  • midline facial cleft / MGI
  • abnormal vertebrae morphology / MGI
  • increased cell proliferation / MGI
  • abnormal craniofacial morphology / MGI
  • microcephaly / MGI
  • abnormal cranium morphology / MGI
  • short snout / MGI
  • abnormal maxilla morphology / MGI
  • interdigital webbing / MGI
  • kinked tail / MGI
  • abnormal forebrain morphology / MGI
  • abnormal embryonic neuroepithelial layer differentiation / MGI
  • abnormal telencephalon morphology / MGI
  • thickened cerebral cortex / MGI
  • abnormal cortical marginal zone morphology / MGI
  • choroid plexus hyperplasia / MGI
  • abnormal brain ventricle morphology / MGI
  • abnormal lateral ventricle morphology / MGI
  • abnormal third ventricle morphology / MGI
  • abnormal fourth ventricle morphology / MGI
  • diencephalon hyperplasia / MGI
  • abnormal thalamus morphology / MGI
  • thalamus hyperplasia / MGI
  • abnormal hypothalamus morphology / MGI
  • hypothalamus hyperplasia / MGI
  • abnormal hindbrain morphology / MGI
  • midbrain hyperplasia / MGI
  • abnormal brain development / MGI
  • exencephaly / MGI
  • cranioschisis / MGI
  • open neural tube / MGI
  • abnormal folding of telencephalic vesicles / MGI
  • small embryonic telencephalon / MGI
  • motor neuron degeneration / MGI
  • persistence of hyaloid vascular system / MGI
  • small lens / MGI
  • abnormal lens polarity / MGI
  • retina hyperplasia / MGI
  • hyperactivity / MGI
  • abnormal apoptosis / MGI
  • hydroencephaly / MGI
  • intracerebral hemorrhage / MGI
  • reduced male fertility / MGI
  • reduced female fertility / MGI
  • male infertility / MGI
  • neoplasm / MGI
  • premature death / MGI
  • abnormal embryonic tissue morphology / MGI
  • abnormal digit morphology / MGI
  • abnormal craniofacial bone morphology / MGI
  • abnormal neural tube morphology / MGI
  • abnormal brain morphology / MGI
  • no abnormal phenotype detected / MGI
  • abnormal seminiferous tubule morphology / MGI
  • abnormal nasal septum morphology / MGI
  • delayed neural tube closure / MGI
  • abnormal neuron morphology / MGI
  • curly tail / MGI
  • spina bifida / MGI
  • increased neuron apoptosis / MGI
  • decreased neuron apoptosis / MGI
  • abnormal forebrain development / MGI
  • nervous system phenotype / MGI
  • abnormal facial morphology / MGI
  • abnormal palate morphology / MGI
  • abnormal cranial flexure morphology / MGI
  • abnormal embryonic neuroepithelium morphology / MGI
  • abnormal embryonic/fetal subventricular zone morphology / MGI
  • absent interparietal bone / MGI
  • absent parietal bone / MGI
  • absent supraoccipital bone / MGI
  • abnormal presphenoid bone morphology / MGI
  • absent presphenoid bone / MGI
  • abnormal neuron physiology / MGI
  • azoospermia / MGI
  • abnormal viscerocranium morphology / MGI
  • spina bifida occulta / MGI
  • hearing/vestibular/ear phenotype / MGI
  • immune system phenotype / MGI
  • abnormal neuronal migration / MGI
  • abnormal otic vesicle development / MGI
  • decreased apoptosis / MGI
  • abnormal retinal neuronal layer morphology / MGI
  • abnormal spermatogonia morphology / MGI
  • abnormal cerebral hemisphere morphology / MGI
  • decreased survivor rate / MGI
  • facial cleft / MGI
  • decreased sensitivity to induced cell death / MGI
  • failure of eyelid fusion / MGI
  • persistence of medial edge epithelium during palatal shelf fusion / MGI
  • abnormal neuron differentiation / MGI
  • abnormal respiratory electron transport chain / MGI
  • postnatal lethality, complete penetrance / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • perinatal lethality, complete penetrance / MGI
  • perinatal lethality, incomplete penetrance / MGI
  • lethality throughout fetal growth and development, complete penetrance / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI
  • abnormal head shape / MGI
  • flat head / MGI
  • encephalomeningocele / MGI
  • increased embryonic neuroepithelium thickness / MGI
  • abnormal fibroblast apoptosis / MGI
  • decreased fibroblast apoptosis / MGI
  • abnormal forehead shape / MGI
  • broad face / MGI
  • broad frontonasal prominence / MGI

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

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Register interest

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

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Practical information

Example health report
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