Analysis Tools
normal phenotype
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• mice are viable and fertile; used for cre reporter expression analysis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are viable and fertile; used for cre reporter expression analysis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• when cultured on fibronectin-coated plates, inter-follicular epidermis melanocytes exhibit reversable increased survival compared with wild-type mice
• impaired melanocyte survival and production of long, breakable and fragmentable dendrites when co-cultured with inter-follicular epidermis
• however, melanocytes exhibit normal migration and extension/retraction of protrusions when co-cultured with inter-follicular epidermis
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• impaired proliferation when melanocytes are co-cultured with inter-follicular epidermis
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• impaired proliferation when melanocytes are co-cultured with inter-follicular epidermis
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• more dendritic morphology with increased protrusions per cell
• some cells in culture adopt a round shape unlike wild-type cells
• melanocytes grown with mouse embryonic fibroblasts exhibit larger and irregular shapes compared with wild-type cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• rhombomere 1 is diminished with only a small domain adjacent to axonal bundles connected to the trigeminal ganglia
• dorsal rhombomere 1 is severely depleted but the ventral portion is less severely affected
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• substantial depletion of the En1 lineage derived mesencephalon at E12.5
• dorsal mesencephalon is severely depleted but the ventral portion is less severely affected
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• severe truncation of the lateral anterior hindbrain
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• aberrantly patterned whisker fields innervated by serotonergic neurons
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• absence of LMX1a+ progenitors throughout the medial-lateral extent of the ventral mesencephalon and decreased numbers in the ventral diencephalon
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• only a small disorganized cohort of TH+ MbDA neurons remain at E8.5
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• rhombomere 1 is diminished with only a small domain adjacent to axonal bundles connected to the trigeminal ganglia
• dorsal rhombomere 1 is severely depleted but the ventral portion is less severely affected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• reduced adult dorsal root ganglia regeneration following sciatic nerve crush injury
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice develop intestinal inflammation in both the proximal and mid-colon by P26-29
• however, no inflammation is seen at earlier time points on in the small intestine
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• mature B-lymphocytes are reduced in Peyers patches and are enriched in the spleen
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• the proportion of total B-lymphocytes in Peyers patches is decreased to about 80% of levels seen in controls, indicating a 3.6-fold reduction in the number of B cells
• mice show a decrease of B-lymphocytes in the germinal centers of spleens and a decrease of B-lymphocytes within the marginal zones
• however, no differences in pre/pro-B lymphocyte and mature B lymphocyte populations at P21 in the bone marrow
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• mice show a decrease of B-lymphocytes in the germinal centers of spleens
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• mice exhibit splenic lymphopenia
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• mice show a decrease of B-lymphocytes within the marginal zones
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• spleens in P21-P24 mice are smaller in size
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• spleens weigh less than those of controls as a proportion of the total body weight
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• decrease in the proportion of total (B220+) B-lymphocytes and in the numbers of total B lymphocytes in spleens
• increase in the proportion of mature B-lymphocytes in the spleen, although numbers are decreased
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• secretory IgA is decreased in the small intestine
• however, no differences in secretory IgA are seen in the nasal airway lavage or bronchoalveolar lavage and no differences in small bowel luminal IgM levels are seen
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• mice develop intestinal inflammation in both the proximal and mid-colon by P26-29
• however, no inflammation is seen at earlier time points on in the small intestine
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• mature B-lymphocytes are reduced in Peyers patches and are enriched in the spleen
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• the proportion of total B-lymphocytes in Peyers patches is decreased to about 80% of levels seen in controls, indicating a 3.6-fold reduction in the number of B cells
• mice show a decrease of B-lymphocytes in the germinal centers of spleens and a decrease of B-lymphocytes within the marginal zones
• however, no differences in pre/pro-B lymphocyte and mature B lymphocyte populations at P21 in the bone marrow
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• mice show a decrease of B-lymphocytes in the germinal centers of spleens
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• mice exhibit splenic lymphopenia
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• mice show a decrease of B-lymphocytes within the marginal zones
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• spleens in P21-P24 mice are smaller in size
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• spleens weigh less than those of controls as a proportion of the total body weight
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• decrease in the proportion of total (B220+) B-lymphocytes and in the numbers of total B lymphocytes in spleens
• increase in the proportion of mature B-lymphocytes in the spleen, although numbers are decreased
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• secretory IgA is decreased in the small intestine
• however, no differences in secretory IgA are seen in the nasal airway lavage or bronchoalveolar lavage and no differences in small bowel luminal IgM levels are seen
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• Peyers patches are hypocellular and exhibit B-cell lymphopenia
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• Peyers patches are small in size in P21-P24 mice but have normal architecture
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hirschsprung's disease | DOID:10487 |
OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 |
J:233811 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• following induction of Cre-mediated recombination by TAM treatment at 3 weeks of age (1st telogen), mice show a noticeable hair-graying phenotype by the 2nd telogen; hair graying persists through the next hair cycle (3rd telogen), unlike in control mice
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• following TAM treatment at 3 weeks of age (1st telogen), mice exhibit unpigmented hair follicles that contain fewer differentiated melanocytes in the bulb by anagen IV
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• following TAM treatment at 3 weeks of age (1st telogen), mice exhibit unpigmented hair follicles unlike control mice
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• following TAM treatment at 3 weeks of age (1st telogen), >65% of hair shafts lack melanin, leading to a hair-graying phenotype at the 2nd and 3rd telogen
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• following TAM treatment at 3 weeks of age (1st telogen), melanocyte stem cells (McSCs) in unpigmented hair follicles show less BrdU incorporation than those in pigmented hair follicles of control mice at anagen III
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• following induction of Cre-mediated recombination by TAM treatment at 3 weeks of age (1st telogen), mice show a noticeable hair-graying phenotype by the 2nd telogen; hair graying persists through the next hair cycle (3rd telogen), unlike in control mice
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• following TAM treatment at 3 weeks of age (1st telogen), mice exhibit unpigmented hair follicles that contain fewer differentiated melanocytes in the bulb by anagen IV
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• following TAM treatment at 3 weeks of age (1st telogen), mice exhibit unpigmented hair follicles unlike control mice
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• following TAM treatment at 3 weeks of age (1st telogen), >65% of hair shafts lack melanin, leading to a hair-graying phenotype at the 2nd and 3rd telogen
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• following TAM treatment at 3 weeks of age (1st telogen), unpigmented hair follicles contain fewer differentiated melanocytes in the bulb by anagen IV, as shown by a decreased number of tomato+ melanocytes expressing differentiation markers Dct, MITF, and S100
• % of apoptotic (Casp3+) bulb melanocytes is significantly increased relative to that in control mice at anagen VI
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• following TAM treatment at 3 weeks of age (1st telogen), melanocyte stem cells (McSCs) in unpigmented hair follicles show less BrdU incorporation than those in pigmented hair follicles of control mice at anagen III
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E13.5, alpha-actinin staining showed that cardiac myocytes are separated from the tdTomato positive cNCCs in the OFT cushion
• by E15.5, far fewer cardiomyocytes are in contact with tdTomato positive cNCCs in the OFT cushion, indicating impaired muscularization
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• by E15.5, cNCCs persist as a fibrous outlet septum in the setting of DORV
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• 12.7% of explanted cultured cardiac neural crest cells (cNCCs) make cell-cell contacts versus 8.5% of control cNCCs; strikingly, 81% of those contacts fail to separate within 2 h versus only 31.2% in control cNCCs, suggesting increased cell-cell adhesion
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• at E9.5, fewer tdTomato-labeled cNCCs are detected in the developing outflow tract (OFT) relative to control embryos, suggesting a delay in cNCC migration
• at E10.5, a nearly complete absence of tdTomato cNCCs is seen in the proximal component of the OFT cushions
• lack of tdTomato cNCCs in the proximal outflow cushion is less severe at E11.5; abundant cNCCs are found in the distal and intermediate outflow cushions, but not in proximal cushions, consistent with delayed migration
• moreover, number of Pax3Cre-tdTomato expressing cells that co-express SOX10 is markedly decreased and the linear migration pattern from the neural tube toward the heart is disrupted; most of tdTomato positive-expressing cells lacking SOX10 expression are located rather peripherally
• N-cadherin staining showed upregulation of N-cadherin expression in migratory NCCs at E8.5 and E9.5
• time-lapse image analysis of explanted cultured cNCCs showed a significant decrease in migration velocity relative to controls
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• 12.7% of explanted cultured cardiac neural crest cells (cNCCs) make cell-cell contacts versus 8.5% of control cNCCs; strikingly, 81% of those contacts fail to separate within 2 h versus only 31.2% in control cNCCs, suggesting increased cell-cell adhesion
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• at E9.5, fewer tdTomato-labeled cNCCs are detected in the developing outflow tract (OFT) relative to control embryos, suggesting a delay in cNCC migration
• at E10.5, a nearly complete absence of tdTomato cNCCs is seen in the proximal component of the OFT cushions
• lack of tdTomato cNCCs in the proximal outflow cushion is less severe at E11.5; abundant cNCCs are found in the distal and intermediate outflow cushions, but not in proximal cushions, consistent with delayed migration
• moreover, number of Pax3Cre-tdTomato expressing cells that co-express SOX10 is markedly decreased and the linear migration pattern from the neural tube toward the heart is disrupted; most of tdTomato positive-expressing cells lacking SOX10 expression are located rather peripherally
• N-cadherin staining showed upregulation of N-cadherin expression in migratory NCCs at E8.5 and E9.5
• time-lapse image analysis of explanted cultured cNCCs showed a significant decrease in migration velocity relative to controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• disruption of somatic innervation during development in the absence of NMDARs at P14
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice administered tamoxifen at P1 show early lethality beginning at P12
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| N |
• mice administered tamoxifen at P1fail to show frequent cranial hemorrhage or cortical brain arteriovenous malformations (bAVMs) at P14 or P21
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• slower growth of horizontal blood vessels in retina at age P7 after tamoxifen administration from age P1-P4
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• increased blood vessel leakage in retina at age P7 after tamoxifen administration from age P1-P4
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• slower growth of horizontal blood vessels in retina at age P7 after tamoxifen administration from age P1-P4
• increased blood vessel leakage at age P7 after tamoxifen administration from age P1-P4
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| exudative vitreoretinopathy | DOID:0050535 |
OMIM:PS133780 |
J:328283 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• slower growth of horizontal blood vessels in retina at age P3 during tamoxifen administration from age P1-P4
• slower growth of horizontal blood vessels in retina at age P9 after tamoxifen administration from age P1-P4
• delayed growth of vertical blood vessels in superficial retina vascular plexus at age P9 after tamoxifen administration from age P1-P
• lack of vertical secondary and tertiary vessels in retina at age P9 after tamoxifen administration from age P1-P4
• defects of vascular growth into deeper layers of retina at age P9 after tamoxifen administration from age P1-P4
• defects in periphery of superficial retina vascular plexus at age P13 after tamoxifen administration from age P6
• fewer vessels in retina OPL and minimal vessels in retina IPL at age P13 after tamoxifen administration from age P6
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• enlarged superficial vessels in retina at age P9 after tamoxifen administration from age P1-P4
• enlarged blood vessels in brain at age P9 after tamoxifen administration from age P1-P4
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• in eyes after tamoxifen administration from age P1-P4
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• extensive blood leakage in brain at age P9 after tamoxifen administration from age P1-P4
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• slower growth of horizontal blood vessels at age P3 during tamoxifen administration from age P1-P4
• slower growth of horizontal blood vessels and enlarged superficial vessels at age P9 after tamoxifen administration from age P1-P4
• delayed growth of vertical blood vessels in superficial retina vascular plexus at age P9 after tamoxifen administration from age P1-P4
• lack of vertical secondary and tertiary vessels at age P9 after tamoxifen administration from age P1-P4
• defects of vascular growth into deeper layers at age P9 after tamoxifen administration from age P1-P4
• defects in periphery of superficial retina vascular plexus at age P13 after tamoxifen administration from age P6
• fewer vessels in OPL and minimal vessels in IPL at age P13 after tamoxifen administration from age P6
• increased blood vessel leakage at age P9 after tamoxifen administration from age P1-P4
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• slower regression after tamoxifen administration from age P1-P4
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• after tamoxifen administration from age P1-P4
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• most mice die by age P9 after tamoxifen administration from age P1-P4
• mice die by age P13-P14 after tamoxifen administration from age P6
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• extensive blood leakage in brain at age P9 after tamoxifen administration from age P1-P4
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• after tamoxifen administration from age P1-P4
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• after tamoxifen administration from age P1-P4
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| exudative vitreoretinopathy | DOID:0050535 |
OMIM:PS133780 |
J:328283 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• ability of the serotonin receptor 2C agonist mCPP to depolarized Pomc-expressing neurons is abolished in mutants
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• beta cells are reprogrammed to alpha cells
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• beta cells are reprogrammed to alpha cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice treated with tamoxifen at 3 weeks of age exhibit beta cells to alpha cells reprogramming
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• mice treated with tamoxifen at 3 weeks of age exhibit beta cells to alpha cells reprogramming
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in some dTomato-positive tail melanoblasts at P0
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• in some dTomato-positive tail melanoblasts at P0
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• some dTomato-positive melanoblasts exhibit fragmentating indicating cell death unlike in control mice
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• some dTomato-positive melanoblasts exhibit fragmentating indicating cell death unlike in control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• disruption of somatic innervation during development in the absence of NMDARs at P14
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• significant increase of the number of differentiated MbDA neurons at E11.5
• significant increase in the number of Ki67+ progenitors in the differentiating zone in medial planes
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• depletion of medial MbDA neurons and expansion of more laterally positioned MbDA neurons at E12.5
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• depletion of medial MbDA neurons
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• significant increase of the number of differentiated MbDA neurons at E11.5
• significant increase in the number of Ki67+ progenitors in the differentiating zone in medial planes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased actin aggregation in the adherens-junction region and expansion of the apical surface
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• no distinguishable stereocilia
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• reduction in stereocilia diameter and length eventually followed by disappearance
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• ruptures
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• disrupted hair cell in some bundles
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• with decreased width
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• no distinguishable stereocilia
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• reduction in stereocilia diameter and length eventually followed by disappearance
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• disrupted hair cell in some bundles
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• with decreased width
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no change in the volume of the granule cell layer in the dentate gyrus or in the number of radial glia-like adult neural stem cells indicating no affect on the adult neural stem cell pool
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• increase in the number of NeuN+ neurons in tamoxifen treated mice at 3 weeks and 7 weeks of age
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• average primary dendritic length and number of dendritic crossings are increased in the dentate gyrus in tamoxifen treated mice
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• increase in spine density in the dentate gyrus in tamoxifen treated mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• biophysical properties of cholinergic neurons are normal
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• melanotan II fails to hyperpolarize membrane potentials of all dorsal motor nucleus vagal cholinergic neurons
• similar results with Mc4r agonist THIQ
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cell-autonomous increased neurogenesis following injection of a cre-expressing adenovirus into lateral ventricles at E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• non-cell autonomous, enhanced proliferation of endothelial-derived valvar interstitial cells leading to valve thickening
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• absence of ventral pancreato-biliary bud
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• growth retardation from E9.5
• degraded posterior body trunk at E9.5
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• growth retardation from E9.5
• degraded posterior body trunk at E9.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• following tamoxifen treatment at E8.5, the ventral mesencephalon is smaller and has an abnormal notch at E12.5
• depletion of TH+ neurons in the medial ventral mesencephalon and an increase in TH+ neurons in the off-midline plane in 2 of 4 embryos at E12.5
• tamoxifen treatment at E10.5 does not produce an overt phenotype in the mesencephalon
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• when cultured on fibronectin-coated plates, inter-follicular epidermis melanocytes exhibit increased survival compared with wild-type mice
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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 04/09/2024 MGI 6.23 |
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