Phenotypes associated with this allele
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1Gt(IRESBetageo)XIX18Pgr mutation
(1 available);
any
Apaf1 mutation
(78 available)
|
|
|
nervous system
|
• cultured neurons show increased survival vs wild-type after camptothecin treatment
|
|
• when cultured neurons express anchored form of Pdcd8 as well as endogenous Pdcd8, significant apoptosis is observed
|
cellular
|
• cultured neurons show increased survival vs wild-type after camptothecin treatment
|
|
• when cultured neurons express anchored form of Pdcd8 as well as endogenous Pdcd8, significant apoptosis is observed
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1Gt(IRESBetageo)XIX18Pgr mutation
(1 available);
any
Apaf1 mutation
(78 available)
|
|
|
mortality/aging
|
• embryonic defects apparent by E12.5, die by E17
|
cellular
|
• induction of apoptosis in mutant embryonic fibroblasts is similar to controls, but mutant fibroblasts show reduced cell death after prolonged treatment with apoptotic stimuli (anti-Fas antibody, C6-ceramide, and staurosporin)
|
craniofacial
|
• late and imperfect palatial fusion occurs
|
nervous system
N |
• at E13-14 and E18, numbers of spinal motoneurons and dorsal root ganglion neurons are not different from wild-type
|
|
• brain hyperplasia presumably due to lack of apoptosis in the mantle layer of the developing diencephalon, midbrain, cerebellum and ventricular layer of the choroid plexus of the fourth ventricle; an excess of differentiating neurons is observed in these locations
|
|
• overgrowth resulting in abnormal folding and generation of a mantle layer
|
|
• may be due to intense overgrowth (hyperplasia) of diencephalon and midbrain
|
|
• may be due to intense overgrowth (hyperplasia) of diencephalon and midbrain
|
|
• results from obliteration of the lumen of the neural tube
|
|
• hyperplasia of the choroid plexus of the fourth ventricle is seen
|
|
• abnormal overgrowth of ventral side of hypothalamus through the base of the skull
|
|
• rostral exencephaly
(J:49840)
• forebrain exencephaly is observed in all animals
(J:131954)
|
|
• at E14 and E18, motoneurons and DRG neurons exhibit degenerative-like changes not seen in wild-type
|
|
• at E14, developing neurons undergo atypical programmed cell death (PCD) in contrast to type 1 (apoptotic-like) mechanism exhibited in wild-type neurons; apoptotic-like degeneration markers (such as TUNEL labeling) are not observed in dying mutant neurons
|
vision/eye
|
• eye vascular endothelial cells obliterate the optic cup at E14.5
|
|
• by E14.5, the hyperplastic retina is folded
|
|
• by E12.5, the retina is noticeably thicker
• by E14.5, the hyperplastic retina fills the optic cup and is folded
|
limbs/digits/tail
|
• interdigital webbing in limb buds with reduced apoptosis
|
skeleton
digestive/alimentary system
|
• late and imperfect palatial fusion occurs
|
embryo
|
• tissues that normally exhibit apoptosis in developmental stages instead exhibit hyperplasia and/or overgrowth
|
|
• overgrowth resulting in abnormal folding and generation of a mantle layer
|
growth/size/body
|
• late and imperfect palatial fusion occurs
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1Gt(IRESBetageo)XIX18Pgr mutation
(1 available);
any
Apaf1 mutation
(78 available)
|
|
|
cellular
|
• 5 Gy gamma-irradiation of CD4+CD8+ thymocytes from hosts reconstituted with Apaf1Gt(IRESBetageo)XIX18Pgr homozygous fetal liver do not display caspase 2 cleavage while those derived from wildtype fetal liver do
|
nervous system
|
• dying motoneurons are rarely observed at E14 and E18, unlike in wild-type animals
|
|
• neurons display characteristics of type 2 (autophagic) programmed cell death, in contrast to type 1 (apoptotic) PCD seen in wild-type
|
|
• motoneurons have normal nuclei and atypical cytoplasm, with structures having characteristics of lysosomes; cytoplasmic organelles appear aggregated in area with many lysosomes and autophagosomes
• mitochondria show loss of cristae and swollen rounded appearance; rough endoplasmic reticulum is dilated and Golgi is hypertrophic
• as degeneration proceeds, nucleus and cytoplasm become more condensed; at late stages, nucleus is condensed but remains intact
|
cellular
|
• dying motoneurons are rarely observed at E14 and E18, unlike in wild-type animals
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aifm1tm2Pngr mutation
(0 available);
any
Aifm1 mutation
(10 available)
Apaf1Gt(IRESBetageo)XIX18Pgr mutation
(1 available);
any
Apaf1 mutation
(78 available)
Foxg1tm1(cre)Skm mutation
(2 available);
any
Foxg1 mutation
(28 available)
|
|
|
cellular
|
• neurons show increased survival vs wild-type after camptothecin treatment
• neurons cultured in pyruvate supplemented media show increased survival after camptothecin treatment
• expression of anchored Pdcd8 does not provide further protection from death to neurons
|
|
• cultured neurons show increased apoptosis reconstituted with wild-type Pdcd8 compared to control; mutant neurons expressing Pdcd8 with a nuclear exclusion sequence show cell death equivalent to control neurons expressing GFP
|
|
• cultured neurons can maintain oxygen consumption after camptothecin treatment if anchored Pdcd8 is expressed
|
nervous system
|
• neurons show increased survival vs wild-type after camptothecin treatment
• neurons cultured in pyruvate supplemented media show increased survival after camptothecin treatment
• expression of anchored Pdcd8 does not provide further protection from death to neurons
|
|
• cultured neurons show increased apoptosis reconstituted with wild-type Pdcd8 compared to control; mutant neurons expressing Pdcd8 with a nuclear exclusion sequence show cell death equivalent to control neurons expressing GFP
|
|
• cortex is thickened compared to Pdcd8 conditional embryos
|
nervous system
|
• reduced apoptosis of cultured cortical neurons resulting from treatment with camptothecin
• neurons show enhanced viability when treated with camptothecin
• only about half of dying cells exhibit DNA fragmentation
|
cellular
|
• reduced apoptosis of cultured cortical neurons resulting from treatment with camptothecin
• neurons show enhanced viability when treated with camptothecin
• only about half of dying cells exhibit DNA fragmentation
|