Analysis Tools
muscle
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• although soleus and tibialis anterior muscles show similar numbers of slow myofibers as in wild-type, the number of fast myofibers is only about 2/3 the number in wild-type
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Allele Symbol Allele Name Allele ID |
Bcl2tm1Sjk targeted mutation 1, Stanley J Korsmeyer MGI:1857134 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although soleus and tibialis anterior muscles show similar numbers of slow myofibers as in wild-type, the number of fast myofibers is only about 2/3 the number in wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• onset of morbidity has a wide range, from 10 days to 10 weeks, with some surviving longer and to at least 19 weeks of age
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• the smallest mutants become noticeably ill and die after 1 week of age, however, the onset of morbidity has a wide range (10 days to 10 weeks), although there is a clustering at 2-3 weeks, just prior to weaning
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• abundant TUNEL-positive apoptotic cells in E12 metanephroi, esp. within the mesenchymal regions
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• rounded snout
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• grossly enlarged kidneys are cystic
(J:15224)
• small kidneys show small cysts
(J:15224)
• relatively few cysts at P7; however, marked cyst formation between P21 and p28
(J:34504)
• at P21, cystic kidneys exhibit nuclear localization of beta-catenin and loss of apical brush border actin staining; however, protein levels of alpha-catenin, beta-catenin, actin, and E-cadherin are not altered in cystic kidneys relative to non-cystic kidneys
(J:53123)
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• detected at 1 week and 8 months of age
(J:22552)
• cortex cysts of both proximal tubule and cortical collecting duct origin at P28
(J:34504)
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• cysts originating from the medullary thick ascending limb of Henle's loop and the medullary collecting ducts at P28
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• develop polycystic kidney disease
(J:15224)
• after P7, cysts develop at mutliple sites along the nephron
(J:34504)
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• decreased body size is first seen at 1 week of age and varies from mutant to mutant
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• mutants that become visibly ill are often lethargic, anorectic, wasted, and at times tremulous
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• growth rate slows after puberty
• exhibit immature facial features at 1 week of age
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• kidneys are either grossly enlarged and cystic or small and pale
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• rounded snout
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• thymocytes show accelerated cell death following an apoptotic stimulates (dexamethasone and radiation) compared to wild-type
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• exhibit involution of thymus with aging and illness
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• increase in double negative CD4-CD8- thymocytes over time
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• the percent of lymphocytes and absolute lymphocyte count are decreased in the peripheral blood of ill mutants (lymphopenia)
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• exhibit a loss of peripheral B cells over time due to increased apoptosis
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• exhibit a loss of peripheral T cells over time due to increased apoptosis
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• loss of CD4+CD8+ double positive thymocytes over time
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• total numbers of CD4+ single positive thymocytes decrease over time
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• total numbers of CD8+ single positive thymocytes decrease over time
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• exhibit massive cell death in lymphoid organs as mice age, especially the spleen and thymus, resulting in lymphoid organ involution
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• exhibit widespread apoptosis in thymus as mutants age and become ill
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• ill mutants exhibit a decrease in thymus size, with increased apoptosis in both cortex and medulla
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• spleen undergoes massive apoptotic involution with age
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• red pulp shows an increase in the proportion of erythroid relative to myeloid lineage cells
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• ill mutants exhibit a decrease in spleen size
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• loss of white pulp lymphoid areas with age and illness; many pyknotic and fragmented cells are noted in white pulp
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• increased apoptosis of cells within cysts and in the renal interstitium at P28, as shown by TUNEL staining
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• mice exhibit hyperproliferative glomerular epithelial and interstitial components with increasing age
(J:15224)
• 87-fold increase in the number of BrdU-positive cells detected in the medulla at P28
(J:34504)
• 1.9-fold increase in the number of BrdU-positive cells detected in the cortex at P28
(J:34504)
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• grossly enlarged kidneys are cystic
(J:15224)
• small kidneys show small cysts
(J:15224)
• relatively few cysts at P7; however, marked cyst formation between P21 and p28
(J:34504)
• at P21, cystic kidneys exhibit nuclear localization of beta-catenin and loss of apical brush border actin staining; however, protein levels of alpha-catenin, beta-catenin, actin, and E-cadherin are not altered in cystic kidneys relative to non-cystic kidneys
(J:53123)
|
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• detected at 1 week and 8 months of age
(J:22552)
• cortex cysts of both proximal tubule and cortical collecting duct origin at P28
(J:34504)
|
|
• cysts originating from the medullary thick ascending limb of Henle's loop and the medullary collecting ducts at P28
|
|
• develop polycystic kidney disease
(J:15224)
• after P7, cysts develop at mutliple sites along the nephron
(J:34504)
|
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• kidneys are either grossly enlarged and cystic or small and pale
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• mice exhibit replacement of the normal flattened epithelium with a cuboidal proximal tubular epithelium and hyperplasia resulting in an immature epithelial crescent crowding the glomerulus, indicating tubular metaplasia of Bowman's epithelium
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• mice exhibit hyperproliferative glomerular epithelial components with increasing age
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• fewer glomeruli are observed in neonatal kidneys relative to controls
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• after 3 days in organ culture, tubulogenesis within the metanephric blastema is significantly reduced
• however, induction of the metanephric blastema occurs in vivo, with no significant differences in the size of metanephroi obtained from E12 mutant and control embryos
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• abundant TUNEL-positive apoptotic cells in E12 metanephroi, esp. within the mesenchymal regions
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• in organ culture, lack of nephrogenic development is confirmed by staining for lectin D. biflorus which stains the ureteric bud
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• after 3 days in organ culture, growth and development of E12 mutant metanephroi is visibly reduced
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• the size of nephrogenic zone is significantly reduced in neonatal kidneys
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• after P7, kidney growth, as reflected by increased size and weight, is significantly slowed relative to wild-type controls
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• mitotic figures, not usually found in mature kidneys, are seen in the hyperplastic tubular epithelium
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• mice exhibit hyperproliferative interstitial components with increasing age
• kidneys have an abnormally abnundant interstitium that contains many cells with pyknotic nuclei within nests of immature appearing cells
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• by P21, unaffected glomeruli and non-cystic proximal tubules undergo compensatory growth
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• kidneys are either small and pale or grossly enlarged and cystic
(J:15224)
• decreased kidney size at 1 week of age
(J:22552)
• neonatal kidneys are not cystic but several-fold smaller than heterozygous control kidneys
(J:22552)
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• approximately one-third of normal kidney weight at birth (P0)
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• renal hypoplasia at P0
(J:34504)
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• reduced nephron number at birth
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• distal tubular ectasia (dilation) is apparent by 1 week after birth
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• proximal tubular ectasia (dilation) is apparent by 1 week after birth
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• small kidneys are pale
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• severe renal insufficiency at 1-8 weeks of age, as shown by increased blood creatinine and BUN levels
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• increases with age
(J:15224)
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• increases with age
(J:15224)
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• hair turns gray with the second follicle cycle
• hypopigmentation often begins at the nose and proceeds caudally over 3-4 days
• hair shafts still demonstrate the differentially pigmented regions seen in wild-type, however they are markedly lightened throughout
• Fontana-Mason stain shows the presence of melanin in all hairs, suggesting a decrease in dark pigment rather than a loss of melanocytes
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• exhibit widespread apoptosis in thymus as mutants age and become ill
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• ill mutants exhibit a decrease in thymus size, with increased apoptosis in both cortex and medulla
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• numerous aberrantly formed primordial follicles with a single flattened layer of granulosa cells and lacking oocytes
• normal primary, preantral, and antral follicles, containing normal oocytes
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• exhibit involution of thymus with aging and illness
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• loss of oocytes in aberrant primordial follicles
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• numerous aberrantly formed primordial follicles with a single flattened layer of granulosa cells and lacking oocytes
• normal primary, preantral, and antral follicles, containing normal oocytes
|
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• thymocytes show accelerated cell death following an apoptotic stimulates (dexamethasone and radiation) compared to wild-type
|
|
• exhibit widespread apoptosis in thymus as mutants age and become ill
|
|
• ill mutants exhibit a decrease in thymus size, with increased apoptosis in both cortex and medulla
|
|
• exhibit involution of thymus with aging and illness
|
|
• increase in double negative CD4-CD8- thymocytes over time
|
|
• the percent of lymphocytes and absolute lymphocyte count are decreased in the peripheral blood of ill mutants (lymphopenia)
|
|
• exhibit a loss of peripheral B cells over time due to increased apoptosis
|
|
• exhibit a loss of peripheral T cells over time due to increased apoptosis
|
|
• loss of CD4+CD8+ double positive thymocytes over time
|
|
• total numbers of CD4+ single positive thymocytes decrease over time
|
|
• total numbers of CD8+ single positive thymocytes decrease over time
|
|
• spleen undergoes massive apoptotic involution with age
|
|
• red pulp shows an increase in the proportion of erythroid relative to myeloid lineage cells
|
|
• ill mutants exhibit a decrease in spleen size
|
|
• loss of white pulp lymphoid areas with age and illness; many pyknotic and fragmented cells are noted in white pulp
|
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• exhibit a decreased number of endothelial cells in the retinas
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• exhibit a significant decrease in retinal vascular density compared to wild-type; retinal vasculature contains less cellularity and fewer capillary loops
• exhibit delayed development and remodeling of retinal vasculature and a significant decrease in the number of major arteries, which branch off from near the optic nerve, however hyaloid vessel regression is not affected
• degree and extent of secondary and tertiary branching is compromised in retinal vasculature
• exhibit increased apoptosis and increased proliferation in the developing retinal vasculature
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• degree of ischemia-induced retinal neovascularization is reduced, however show a similar sensitivity to hyperoxia-mediated vessel obliteration
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• exhibit a decreased number of pericytes in retinas
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• exhibit a significant decrease in retinal vascular density compared to wild-type; retinal vasculature contains less cellularity and fewer capillary loops
• exhibit delayed development and remodeling of retinal vasculature and a significant decrease in the number of major arteries, which branch off from near the optic nerve, however hyaloid vessel regression is not affected
• degree and extent of secondary and tertiary branching is compromised in retinal vasculature
• exhibit increased apoptosis and increased proliferation in the developing retinal vasculature
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• degree of ischemia-induced retinal neovascularization is reduced, however show a similar sensitivity to hyperoxia-mediated vessel obliteration
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• loss of oocytes in aberrant primordial follicles
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• at P21, cystic kidneys exhibit an altered distribution of beta-catenin and actin, suggesting that abnormal cell-cell adhesive interactions may contribute to cyst formation
|
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• thymocytes show accelerated cell death following an apoptotic stimulates (dexamethasone and radiation) compared to wild-type
|
|
• abundant TUNEL-positive apoptotic cells in E12 metanephroi, esp. within the mesenchymal regions
|
|
• increased apoptosis of cells within cysts and in the renal interstitium at P28, as shown by TUNEL staining
|
|
• mice exhibit hyperproliferative glomerular epithelial and interstitial components with increasing age
(J:15224)
• 87-fold increase in the number of BrdU-positive cells detected in the medulla at P28
(J:34504)
• 1.9-fold increase in the number of BrdU-positive cells detected in the cortex at P28
(J:34504)
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice show complete loss of LacZ+ melanoblasts in the bulge area at the end stage of hair follicle morphogenesis (i.e. stage 8, but not stage 6), indicating apoptosis of bulge melanocyte stem cells; in contrast, pigmented melanocytes are still maintained in the bulb at stage 8
• mice treated with an anti-TGF-beta blocking antibody during the process of stem cell entry to the dormant state (stage 5-8) exhibit increased survival (rescue) of bulge LacZ+ melanoblasts at P4, P6, and P8, whereas untreated mice or mice treated with a control antibody display virtual loss of LacZ+ melanoblasts from the bulge area by P8
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• mice show complete loss of LacZ+ melanoblasts in the bulge area at the end stage of hair follicle morphogenesis (i.e. stage 8, but not stage 6), indicating apoptosis of bulge melanocyte stem cells; in contrast, pigmented melanocytes are still maintained in the bulb at stage 8
• mice treated with an anti-TGF-beta blocking antibody during the process of stem cell entry to the dormant state (stage 5-8) exhibit increased survival (rescue) of bulge LacZ+ melanoblasts at P4, P6, and P8, whereas untreated mice or mice treated with a control antibody display virtual loss of LacZ+ melanoblasts from the bulge area by P8
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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