Allele Symbol Allele Name Allele ID |
Rbpjtm1Hon targeted mutation 1, Tasuku Honjo MGI:3583755 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Summary |
32 genotypes
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• doxycycline-treated mice die shortly after birth
|
• at E18.5, myofibroblasts in the lungs of doxycycline-treated mice exhibit reduced differentiation, as determined by sma+ expression, compared to in wild-type mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• expected Mendelian ratios of mice are born but homozygotes fail to suckle and subsequently die within the first postnatal day
|
• at E11.5, more progenitor cells have started to differentiate (indicated by increased Myod expression)
• at E12.5 in the limbs, more cells express markers of myogenic differentiation and fewer progenitor cells remain
• at E14.5 in the limbs, fewer muscle progenitor cells are present and those present have reduced proliferative capacity
• at E18.5 all cells are postmitotic unlike in wild-type
• however, the muscle progenitor cells migration is unaffected
|
• at E14.5 there is a reduction in the size of limb muscle groups
|
• absence of satellite cells in limb muscle at E18.5
• very few satellite cells are seen in intrinsic tongue muscle at E14.5
however, satellite cells can be detected in the distal forelimb
|
• muscle fibers in limb muscle have reduced density and the ratio of Myod+ nuclei/fiber is reduced
• however, myofiber diameter is comparable to wild-type
|
• homozygotes fail to suckle
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• embryos are normal at E12.5, but die at E13.5
|
• podocytes with WT1high expression do not develop in E12.5 cultures
|
• cultured E12.5 mtanephroi branch normally, but tubules positive for LTL (lectin) are not detected
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• expected Mendelian ratios are born but homozygous mice do not move or breath and die shortly after birth
|
• at E11.5, progenitor cell numbers in the myotome are decreased and the number of differentiated cells is increased compared to wild-type
|
• at E14.5 residual back muscles are small and lack progenitor cells
• limb muscles have reduced myogenic precursor cells and lack satellite cells
|
• diaphragm is smaller
|
• intercostal muscles are small
|
• at E14.5, the size of limb muscle groups is reduced
|
• absence of satellite cells in limb, intercostals, diaphragm and deep back muscles
|
• no movement at birth
|
• at E10.5 and E11.5, mice exhibit precocious neuronal differentiation compared to in wild-type mice
• overall neurogenesis is increased in the dorsal spinal cord
• the numbers of dI2 and dI3 neurons are increased slightly while the number of dI5 neurons is increased dramatically compared to in wild-type mice
|
• the dorsal neural tube in E10.5 embyros lacks dI4 neurons with the number of dI2, dI3, and dI5 neurons being increased
• the number of dI5 neurons is dramatically increased while increases in dI2 and dI3 neurons are more modest
• there is a significant decrease in the thickness of the progenitor domain of the E11.5 neural tube and a corresponding increase in the neuronal domain
• the dorsal progenitor domain of the neural tube is depleted by E12
|
• mice exhibit a reduction in the number of dI4 neurons compared to in wild-type mice
|
• the numbers of dI3 neurons are increased slightly compared to in wild-type mice
|
• the progenitor domain is reduced compared to in wild-type mice
|
• mice exhibit a complete loss of dI4 interneurons
|
• the dorsal neural tube in E10.5 embyros lacks dI4 neurons with the number of dI2, dI3, and dI5 neurons being increased
• the number of dI5 neurons is dramatically increased while increases in dI2 and dI3 neurons are more modest
• there is a significant decrease in the thickness of the progenitor domain of the E11.5 neural tube and a corresponding increase in the neuronal domain
• the dorsal progenitor domain of the neural tube is depleted by E12
|
• at E10.5 and E11.5, mice exhibit precocious neuronal differentiation compared to in wild-type mice
• overall neurogenesis is increased in the dorsal spinal cord
• the numbers of dI2 and dI3 neurons are increased slightly while the number of dI5 neurons is increased dramatically compared to in wild-type mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• tamoxifen-treated mice exhibit normal proliferation of YFP+ acinar cells
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• tamoxifen-treated mice exhibit normal pancreatic ductal morphology and pancreata mass
|
• tamoxifen-treated mice exhibit a decrease in YFP+ centroacinar cells compared with control mice
|
• tamoxifen-treated mice exhibit an increase in YFP+ acinar cells compared with control mice
|
• tamoxifen-treated mice exhibit a rapid transformation of YFP+ centroacinar cells into acinar cells compared with control mice
• however, tamoxifen-treated mice exhibit normal centroacinar and acinar cells proliferation and apoptosis
|
• tamoxifen-treated mice exhibit a decrease in YFP+ centroacinar cells compared with control mice
|
• tamoxifen-treated mice exhibit an increase in YFP+ acinar cells compared with control mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
• following induction of in vivo artificial decidualization (AD), mice show a reduced decidual response on both 3 and 5 days after AD (AD3 and AD5) based on stimulated to unstimulated uterine horn weight ratio
• on AD5, impaired decidualization is associated with decreased uterine mRNA expression of decidual markers (Bmp2 and Wnt4) and reduced progesterone receptor (Pgr) signaling in the stimulated horn relative to control mice
• consistent with a trend towards decreased mRNA expression of glucose transporter Slc2a1, protein localization SLC2A1 is significantly reduced in the decidual horn esp. within the secondary decidual zone
|
|
• following induction of in vivo artificial decidualization (AD), mice show a reduced decidual response on both 3 and 5 days after AD (AD3 and AD5) based on stimulated to unstimulated uterine horn weight ratio
• on AD5, impaired decidualization is associated with decreased uterine mRNA expression of decidual markers (Bmp2 and Wnt4) and reduced progesterone receptor (Pgr) signaling in the stimulated horn relative to control mice
• consistent with a trend towards decreased mRNA expression of glucose transporter Slc2a1, protein localization SLC2A1 is significantly reduced in the decidual horn esp. within the secondary decidual zone
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice exhibit rescue of growth retardation and osteosclerotic phenotypes seen in single Gt(ROSA)26Sortm1(Notch1)Dam conditional mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• at E18.5, the respiratory epithelium was populated almost exclusively by Foxj1-expressing ciliated cells, unlike in control lungs where ciliated cells were interspersed with secretory Clara cells
• at E18.5, Ki67 labeling was dramatically reduced in large, medium and small airways, suggesting a severe decrease in epithelial cell proliferation relative to control lungs
• however, goblet cell fate was not lost, as shown by PAS and Alcian Blue staining of tracheal sections at birth (P0)
|
• no secretory Clara cells were detected at E18.5, as determined by specific marker analysis
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• following treatment with tamoxifen, mice exhibit a reduction in the number of dILA neurons and an increased in the number of dILB neurons compared to in wild-type mice
|
• there is a decrease in the thickness of the progenitor zone in the neural tube of E13.5 embryos when tamoxifen is given at E10.5
• tamoxifen induction at E10.5 leads to about a 50% reduction in dILA neurons in newborns and about a 50% increase in dILB neurons
|
• following treatment with tamoxifen, mice exhibit a reduction in the number of dILA neurons compared to in wild-type mice
|
• following treatment with tamoxifen, mice exhibit an increased in the number of dILB neurons compared to in wild-type mice
|
• at E13.5 following treatment with tamoxifen, the progenitor domain is reduced compared to in wild-type mice
|
• there is a decrease in the thickness of the progenitor zone in the neural tube of E13.5 embryos when tamoxifen is given at E10.5
• tamoxifen induction at E10.5 leads to about a 50% reduction in dILA neurons in newborns and about a 50% increase in dILB neurons
|
• following treatment with tamoxifen, mice exhibit a reduction in the number of dILA neurons and an increased in the number of dILB neurons compared to in wild-type mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• the diameter of the dorsal aorta is reduced at E9.5
|
• at E9.5 PECAM-1 staining revealed a complete lack of vascular remodeling
|
• the distal outflow tract is connected to the anterior cardinal vein by an anastamoses
|
• some embryos also have more caudal fusions of the dorsal aorta to the common cardinal vein
|
• an avascular yolk is seen at E9.5
|
• pericardial effusion is seen at E9.5
|
• an avascular yolk is seen at E9.5
|
• embryonic growth retardation is seen at E9.5
|
• embryonic growth retardation is seen at E9.5
|
• pericardial effusion is seen at E9.5
|
• at E9.5 PECAM-1 staining revealed a complete lack of vascular remodeling
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• defects in heart morphology and development are unaffected by the presence of the transgene
|
• defects in heart morphology and development are unaffected by the presence of the transgene
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• transplanted bone marrow progenitors transfected with BCR-ABL and NUP98-HOXA9 proliferate slower than similarly treated wild-type cells improving host survival
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mutants show high sensitivity to the lethal effects of blood-borne Staphylococcus aureus infection
|
• affected differentiation of T2 B cells, indicated by a reduced population of marginal zone B (MZB) cells and an increased population of follicular B cells
|
• loss of marginal zone B cells
(J:76240)
• decreased numbers of marginal zone B cells
(J:121523)
|
• increased numbers of follicular B cells in spleen
(J:121523)
|
• 3-fold increase in serum IgG3
|
• increased mortality rate after blood-born bacterial infection
|
• mutants show high sensitivity to the lethal effects of blood-borne Staphylococcus aureus infection
|
• affected differentiation of T2 B cells, indicated by a reduced population of marginal zone B (MZB) cells and an increased population of follicular B cells
|
• loss of marginal zone B cells
(J:76240)
• decreased numbers of marginal zone B cells
(J:121523)
|
• increased numbers of follicular B cells in spleen
(J:121523)
|
• 3-fold increase in serum IgG3
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• cysts result from aberrant fate determination of stem cells to epidermal progenitors and their accelerated differentiation into epidermis
|
• cysts in the dermal layer but not in the epidermis, close to hair follicles, frequently in the vibrissa region
• cysts are composed of epidermal cells aberrantly differentiated from mutant hair follicular stem cells
• cyst formation occurs after hair loss or after the first hair cycle
|
• begin to lose hair 1-3 months after birth, when the first or second hair cycle terminates
• hair loss frequently occurs in the vibrissa region
|
• hyperkeratinization of the epidermis on the back and tail
|
• epidermis is thickened in some regions
|
• cysts in the dermal layer but not in the epidermis, close to hair follicles, frequently in the vibrissa region
• cysts are composed of epidermal cells aberrantly differentiated from mutant hair follicular stem cells
• cyst formation occurs after hair loss or after the first hair cycle
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 3 and 5 days after injection with beta-naphthoflavone the number of goblet cells is increased in the small intestine and colon
|
• 5 days after injection with beta-naphthoflavone, essentially all epithelial cell division has stopped in the small intestine and colon, but no significant increase in apoptosis is seen
|
• 5 days after injection with beta-naphthoflavone, in the small intestine and colon the rapidly dividing transit amplifying compartment is completely replaced by post-mitotic goblet cells
• however, in the small intestine Paneth cell morphology is normal
|
• 5 days after injection with beta-naphthoflavone, in the small intestine and colon the rapidly dividing transit amplifying compartment is completely replaced by post-mitotic goblet cells
• however, in the small intestine Paneth cell morphology is normal
|
• 3 and 5 days after injection with beta-naphthoflavone the number of goblet cells is increased in the small intestine and colon
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 1 and 3 months after poly(I)-poly(C) injection, thymus size is reduced
|
• 1 month after poly(I)-poly(C) injection, the number of thymocytes is reduced and by 3 months the number of thymocytes is reduced to 1/8 that in control mice
|
• 1 and 3 months after poly(I)-poly(C) injection, in the thymus and bone marrow lymphocyte progenitors induce B cell development at the expense of T cell development; however myeloid and B cell lineage development in the bone marrow is normal
|
• after poly(I)-poly(C) injection, B cell development is impaired in the spleen but not in the bone marrow
|
• 1 and 3 months after poly(I)-poly(C) injection, a progressive increase in the number of double negative cells is seen in the thymus; however many of these cells are B cells
|
• 1 and 3 months after poly(I)-poly(C) injection, a progressive decrease in the number of double positive cells is seen in the thymus
|
• 1 and 3 months after poly(I)-poly(C) injection, T cell development is arrested at the CD44+CD25- pro-T cell or earlier stage
(J:99747)
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, mice manifest a block in T cell development in the thymus
(J:125869)
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, fraction of PDCs is elevated in the spleen
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, proportion of conventional Cd11chigh MHC class II+ dendritic cells is reduced 2.5 fold; decrease in the fraction of Cd11b+ dendritic cells corresponding to the CD8- subset is consistently observed
|
• one month after IFN-induced deletion, mutants show a gradual deletion of marginal zone B cells, from 10% to 3% of splenic B cells
(J:76240)
• after poly(I)-poly(C) injection, marginal zone B cells are drastically reduced in spleen
(J:99747)
|
• 1 and 3 months after poly(I)-poly(C) injection, a progressive increase in the number of B cells is seen in the thymus
(J:99747)
• after poly(I)-poly(C) injection, pro-B and pre-B cell numbers are increased in the thymus
(J:99747)
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, increased B cell development in the thymus is observed
(J:125869)
|
• after poly(I)-poly(C) injection, follicular B cells are slightly increased in spleen
|
• 1 and 3 months after poly(I)-poly(C) injection, a progressive decrease in the number of single positive cells is seen in the thymus
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, fraction of Cd11b+ Cd11c- monocytes/macrophages is elevated in the spleen
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, fraction of Cd11b+ Cd11c- monocytes/macrophages is elevated in the spleen
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, there is decreased splenic dendritic cell content
|
• 1 and 3 months after poly(I)-poly(C) injection, thymus size is reduced
|
• 1 month after poly(I)-poly(C) injection, the number of thymocytes is reduced and by 3 months the number of thymocytes is reduced to 1/8 that in control mice
|
• 1 and 3 months after poly(I)-poly(C) injection, in the thymus and bone marrow lymphocyte progenitors induce B cell development at the expense of T cell development; however myeloid and B cell lineage development in the bone marrow is normal
|
• after poly(I)-poly(C) injection, B cell development is impaired in the spleen but not in the bone marrow
|
• 1 and 3 months after poly(I)-poly(C) injection, a progressive increase in the number of double negative cells is seen in the thymus; however many of these cells are B cells
|
• 1 and 3 months after poly(I)-poly(C) injection, a progressive decrease in the number of double positive cells is seen in the thymus
|
• 1 and 3 months after poly(I)-poly(C) injection, T cell development is arrested at the CD44+CD25- pro-T cell or earlier stage
(J:99747)
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, mice manifest a block in T cell development in the thymus
(J:125869)
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, fraction of PDCs is elevated in the spleen
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, proportion of conventional Cd11chigh MHC class II+ dendritic cells is reduced 2.5 fold; decrease in the fraction of Cd11b+ dendritic cells corresponding to the CD8- subset is consistently observed
|
• one month after IFN-induced deletion, mutants show a gradual deletion of marginal zone B cells, from 10% to 3% of splenic B cells
(J:76240)
• after poly(I)-poly(C) injection, marginal zone B cells are drastically reduced in spleen
(J:99747)
|
• 1 and 3 months after poly(I)-poly(C) injection, a progressive increase in the number of B cells is seen in the thymus
(J:99747)
• after poly(I)-poly(C) injection, pro-B and pre-B cell numbers are increased in the thymus
(J:99747)
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, increased B cell development in the thymus is observed
(J:125869)
|
• after poly(I)-poly(C) injection, follicular B cells are slightly increased in spleen
|
• 1 and 3 months after poly(I)-poly(C) injection, a progressive decrease in the number of single positive cells is seen in the thymus
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, fraction of Cd11b+ Cd11c- monocytes/macrophages is elevated in the spleen
|
• 3 weeks after induction of cre expression by poly(I):poly(C) treatment, fraction of Cd11b+ Cd11c- monocytes/macrophages is elevated in the spleen
|
• 1 and 3 months after poly(I)-poly(C) injection, thymus size is reduced
|
• 1 month after poly(I)-poly(C) injection, the number of thymocytes is reduced and by 3 months the number of thymocytes is reduced to 1/8 that in control mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• severely decreased numbers of marginal zone B cells in spleen
|
• increased numbers of follicular B cells in spleen
|
• severely decreased numbers of marginal zone B cells in spleen
|
• increased numbers of follicular B cells in spleen
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• splenic dendritic cell (DC) population is decreased similarly to bone marrow deletion of Rbpj; ratio of CD8-/CD8+ dendritic cells is significantly decreased, resulting from 3-fold decrease in numbers of CD8- DCs with normal numbers of CD8+ DCs
• frequency of cytokine-secreting CD8- DCs in cultured splenocytes is decreased 3-fold compared to controls whereas cytokine-secreting CD8+ DCs is unchanged
|
• splenic dendritic cell (DC) population is decreased similarly to bone marrow deletion of Rbpj; ratio of CD8-/CD8+ dendritic cells is significantly decreased, resulting from 3-fold decrease in numbers of CD8- DCs with normal numbers of CD8+ DCs
• frequency of cytokine-secreting CD8- DCs in cultured splenocytes is decreased 3-fold compared to controls whereas cytokine-secreting CD8+ DCs is unchanged
|
• in response to TLR activation, dendritic cell cytokine production is decreased compared to controls
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• valve formation is abnormal due to a lack of epithelial-mesenchymal transition and defective trabeculae
• trabecular layers are underdeveloped
|
• endocardial layers are abnormally detached from myocardial layers
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice show normal T cell development in the thymus and periphery
|
• engrafted mice show a nearly 2-fold increase in absolute number of T cells, while the B cell compartment is not different from wild-type
|
• in draining lymph nodes, a significant increase in CD4+ and CD8+ T cells is detected
|
• animals exhibit a significant increase in macrophage antigen-1-positive cells in spleens
|
• mice show 1.5-fold increase splenocyte number in engrafted mice
|
• skin and cardiac allografts from BALB/c mice to Rbpj-deficient mice show decreased survival time
• grafts of both tissue type show increased leukocyte infiltration
|
• percentage of proliferating CD4+ cells is significantly increased in lymph nodes and spleen; a similar increase in CD8+ T cells in spleen and lymph nodes is observed in engrafted animals
|
• suppression activity of CD4+CD25+ regulatory T cells is significantly attenuated in vitro; generation of Treg cells in vivo in graft recipients is not altered
|
• percentage of proliferating CD4+ cells is significantly increased in lymph nodes and spleen; a similar increase in CD8+ T cells in spleen and lymph nodes is observed in engrafted animals
|
• engrafted mice show a nearly 2-fold increase in absolute number of T cells, while the B cell compartment is not different from wild-type
|
• in draining lymph nodes, a significant increase in CD4+ and CD8+ T cells is detected
|
• animals exhibit a significant increase in macrophage antigen-1-positive cells in spleens
|
• mice show 1.5-fold increase splenocyte number in engrafted mice
|
• suppression activity of CD4+CD25+ regulatory T cells is significantly attenuated in vitro; generation of Treg cells in vivo in graft recipients is not altered
|
• percentage of proliferating CD4+ cells is significantly increased in lymph nodes and spleen; a similar increase in CD8+ T cells in spleen and lymph nodes is observed in engrafted animals
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• nave T cells fail to differentiate into the Th2 sub-type when co-cultured with LPS-treated DC from Myd88-null mice
• addition of IL-4 rescued this defect
|
• nave T cells fail to differentiate into the Th2 sub-type when co-cultured with LPS-treated DC from Myd88-null mice
• addition of IL-4 rescued this defect
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 6 days after the last injection of tamoxifen (given for 5 consecutive days), in the small intestine and colon the rapidly dividing transit amplifying compartment is replaced by post-mitotic goblet cells, with almost complete conversion by 12 days
|
• 6 days after the last injection of tamoxifen (given for 5 consecutive days), in the small intestine and colon the rapidly dividing transit amplifying compartment is replaced by post-mitotic goblet cells, with almost complete conversion by 12 days
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
The number of melanocyte lineage cells is dramatically reduced in Rbpjtm1Hon Rbpjtm1Hon Tg(Tyr-cre)#Lru/0 mice
• mice show a severe reduction of melanocytes (MCs) in hair follicles (HFs) at P4 and virtual loss of MCs in HFs at P32
• a reduction of MCs is noted in the hair matrix (HM) at P4; however, mature MCs are still retained in the HM at P12
• by P32, HFs lack both immature melanoblasts in the lower permanent portion (LPP) and differentiated MCs in the HM, indicating loss of the MSCs
|
• initial wave of melanogenesis during HF morphogenesis is severely impaired
|
• mice exhibit loss of hair pigmentation after the first hair molting
|
• at P4 and P18, mice exhibit severe coat-color dilution in the initial hairs
• at P18, hairs are a mixture of pigmented and unpigmented, whereas hairs from control mice are fully pigmented
• by P32 (subsequent hair cycle), almost all hairs grown in a shaved area are unpigmented
|
• mice show a severe reduction of melanocytes (MCs) in hair follicles (HFs) at P4 and virtual loss of MCs in HFs at P32
• a reduction of MCs is noted in the hair matrix (HM) at P4; however, mature MCs are still retained in the HM at P12
• by P32, HFs lack both immature melanoblasts in the lower permanent portion (LPP) and differentiated MCs in the HM, indicating loss of the MSCs
|
• mice show a severe reduction of melanocytes (MCs) in hair follicles (HFs) at P4 and virtual loss of MCs in HFs at P32
• a reduction of MCs is noted in the hair matrix (HM) at P4; however, mature MCs are still retained in the HM at P12
• by P32, HFs lack both immature melanoblasts in the lower permanent portion (LPP) and differentiated MCs in the HM, indicating loss of the MSCs
|
• initial wave of melanogenesis during HF morphogenesis is severely impaired
|
• mice exhibit loss of hair pigmentation after the first hair molting
|
• at P4 and P18, mice exhibit severe coat-color dilution in the initial hairs
• at P18, hairs are a mixture of pigmented and unpigmented, whereas hairs from control mice are fully pigmented
• by P32 (subsequent hair cycle), almost all hairs grown in a shaved area are unpigmented
|
• whole-mount staining of dorsal skin epidermis using anti-c-Kit antibody revealed a significant reduction of melanoblast numbers at E16.5 and P0 relative to control mice
• at P4, some Dct+ melanoblasts are still detected in the lower permanent portion (LPP) of HFs; however, unlike in control mice, these are essentially lost by P12, indicating loss of melanocyte stem cells (MSCs)
|
• whole-mount staining of dorsal skin epidermis using anti-c-Kit antibody revealed a significant reduction of melanoblast numbers at E16.5 and P0 relative to control mice
• at P4, some Dct+ melanoblasts are still detected in the lower permanent portion (LPP) of HFs; however, unlike in control mice, these are essentially lost by P12, indicating loss of melanocyte stem cells (MSCs)
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• the number and percent of double positive thymocytes is increased compared to in wild-type mice
|
• the number and percent of double positive thymocytes is increased compared to in wild-type mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• loss of one allele has no affect on coat color; no graying or dilution is observed in 8-week old mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• pigmentation mediated by non-follicular melanocytes such as in the ear or eye is not affected by this mutation
|
• almost complete hair whitening is observed
|
• almost complete hair whitening is observed
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice do not exhibit an abnormal bone phenotype at 2 months of age
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
• at day 7 of pregnancy immature alveoli consist of round cells with radially positioned nuclei around the central lumen; cells are irregularly arranged with frequent gaps between them; also many of the lumina contained cellular debris
• on day 11, epithelia appears much sparser
• on day 13, clusters of disorganized cells with irregularly- shaped nuclei are seen and lipid droplets in the lumina are rare and proteinaceous material
• at term, an increase in disorganized cell clusters is seen, with the majority of cells having dark irregularly shaped nuclei surrounding small groups of cells with larger round nuclei
• a paucity of true luminal cells is found in mutant mammary glands during pregnancy
• when mutant mammary epithelium is transplanted into athymic nude mice from which the mammary tissue had been cleared for three generations, it is seen that there is restoration of normal ductal architecture after involution
|
|
• at day 7 of pregnancy immature alveoli consist of round cells with radially positioned nuclei around the central lumen; cells are irregularly arranged with frequent gaps between them; also many of the lumina contained cellular debris
• on day 11, epithelia appears much sparser
• on day 13, clusters of disorganized cells with irregularly- shaped nuclei are seen and lipid droplets in the lumina are rare and proteinaceous material
• at term, an increase in disorganized cell clusters is seen, with the majority of cells having dark irregularly shaped nuclei surrounding small groups of cells with larger round nuclei
• a paucity of true luminal cells is found in mutant mammary glands during pregnancy
• when mutant mammary epithelium is transplanted into athymic nude mice from which the mammary tissue had been cleared for three generations, it is seen that there is restoration of normal ductal architecture after involution
|
|
• at day 7 of pregnancy immature alveoli consist of round cells with radially positioned nuclei around the central lumen; cells are irregularly arranged with frequent gaps between them; also many of the lumina contained cellular debris
• on day 11, epithelia appears much sparser
• on day 13, clusters of disorganized cells with irregularly- shaped nuclei are seen and lipid droplets in the lumina are rare and proteinaceous material
• at term, an increase in disorganized cell clusters is seen, with the majority of cells having dark irregularly shaped nuclei surrounding small groups of cells with larger round nuclei
• a paucity of true luminal cells is found in mutant mammary glands during pregnancy
• when mutant mammary epithelium is transplanted into athymic nude mice from which the mammary tissue had been cleared for three generations, it is seen that there is restoration of normal ductal architecture after involution
|
• cysts containing abundant whorls of keratin are observed
|
• mutant skin display hyperkeratinization
|
• cysts containing abundant whorls of keratin are observed
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• fewer embryos than expected are found at E10.0
|
• at E10.0, number of Prox1+ve lymphatic endothelial cells is dramatically reduced
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• fewer embryos than expected are found at E10.0
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 08/21/2024 MGI 6.24 |
![]() |
|