Analysis Tools
normal phenotype
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• all survive and are similar in size to wild-type littermates
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Allele Symbol Allele Name Allele ID |
Yy1tm2.1Yshi targeted mutation 2.1, Yang Shi MGI:3624790 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all survive and are similar in size to wild-type littermates
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• embryos do not present lung defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Absence of melanocytes or pigment in hair follicles of Yy1tm2.1Yshi/Yy1tm2.1Yshi Tg(Tyr-cre)1Lru/Y Tg(Dct-lacZ)A12Jkn/0 mice at the anagen phase of the second hair cycle
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• mice show absence of differentiated melanocytes in hair follicles at the anagen phase of the second hair cycle (P38)
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• mice show absence of pigment in hair follicles at the anagen phase of the second hair cycle (P38)
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• absence of differentiated melanocytes in hair follicles at P38
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• mice show absence of differentiated melanocytes in hair follicles at the anagen phase of the second hair cycle (P38)
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• mice show absence of pigment in hair follicles at the anagen phase of the second hair cycle (P38)
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• absence of Dct-LacZ+ melanocyte stem cells (melanoblasts) in hair follicles at P38
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• absence of Dct-LacZ+ melanocyte stem cells (melanoblasts) in hair follicles at P38
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Skin and hair pigmentation phenotype of Yy1tm2.1Yshi/Yy1tm2.1Yshi Tg(Tyr-cre)1Lru/Y mice
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• mice exhibit premature gray hair after the first hair cycle
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• during the first hair cycle (P0-P28), P10 ventral hairs are essentially devoid of pigment, whereas hairs from dorsal skin are much less pigmented than those in control mice; however, white dorsal fur is observed by P45
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• in the second hair cycle anagen phase (P28-P42), new dorsal hair follicles completely lack DCT+ melanocytes, corresponding to subsequent white dorsal fur seen at P45
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• at P4, dorsal skin shows small amounts of residual hair follicle melanin; residual dorsal melanocytes (DCT+) continue to express YY1, indicating incomplete Cre-mediated deletion
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• in the second hair cycle anagen phase (P28-P42), new dorsal hair follicles completely lack melanin pigment
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• at P4, mice show profoundly lighter skin pigmentation relative to control mice
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• mice exhibit complete loss of hair follicle melanocytes after the first hair cycle
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• mice exhibit premature gray hair after the first hair cycle
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• during the first hair cycle (P0-P28), P10 ventral hairs are essentially devoid of pigment, whereas hairs from dorsal skin are much less pigmented than those in control mice; however, white dorsal fur is observed by P45
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• in the second hair cycle anagen phase (P28-P42), new dorsal hair follicles completely lack DCT+ melanocytes, corresponding to subsequent white dorsal fur seen at P45
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• at P4, dorsal skin shows small amounts of residual hair follicle melanin; residual dorsal melanocytes (DCT+) continue to express YY1, indicating incomplete Cre-mediated deletion
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• in the second hair cycle anagen phase (P28-P42), new dorsal hair follicles completely lack melanin pigment
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• at P4, mice show profoundly lighter skin pigmentation relative to control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• oocytes rarely grow larger than 50 um in diameter, indicating arrested oocyte growth
• oocyte-specific expression of Gdf9 and Bmp15 is nearly undetectable
• oocytes exhibit altered levels of several oocyte-specific factors, including Pou5f1, Figla, Lhx8, Oosp1, and Sohlh2
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• secondary follicles often contain a degenerating oocyte
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• no mature follicles are observed
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• percent of follicles in the primary stage is significantly higher than in controls (83% versus 20%)
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• no multilayered, antral follicles or Graafian follicles are observed
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• ovarian follicle maturation is halted; no post-secondary follicles are observed
• however, no differences are observed in the number of primordial follicles
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• some secondary follicles exhibit an irregular/incomplete second layer of granulosa cells and often contain a degenerating oocyte
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• percent of follicles in the secondary stage is significantly lower than in controls (17% versus 45%)
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• adult females show a ~30% reduction in ovary size relative to control females
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• in whole ovaries, mRNA levels of Gdf9 and Bmp15 are nearly undetectable, whereas mRNA levels of Bmp6, Kit, and Kitl are significantly increased relative to control ovaries
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• although vaginal cytology indicates estrus stage changes, no regular cycle or periodicity is observed during a 3-wk test period indicating failure of estrus cycling
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• when placed individually with wild-type males, 6-wk-old females never appeared pregnant or produced offspring
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• serum inhibin-A levels are decreased or undetectable in all females examined, regardless of staging by vaginal cytology
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• serum FSH levels are dramatically increased in females, regardless of staging by vaginal cytology
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• vaginal plugs are infrequently detected during a 5-mo breeding trial
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• oocytes rarely grow larger than 50 um in diameter, indicating arrested oocyte growth
• oocyte-specific expression of Gdf9 and Bmp15 is nearly undetectable
• oocytes exhibit altered levels of several oocyte-specific factors, including Pou5f1, Figla, Lhx8, Oosp1, and Sohlh2
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• secondary follicles often contain a degenerating oocyte
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• no mature follicles are observed
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• percent of follicles in the primary stage is significantly higher than in controls (83% versus 20%)
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• no multilayered, antral follicles or Graafian follicles are observed
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• ovarian follicle maturation is halted; no post-secondary follicles are observed
• however, no differences are observed in the number of primordial follicles
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• some secondary follicles exhibit an irregular/incomplete second layer of granulosa cells and often contain a degenerating oocyte
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• percent of follicles in the secondary stage is significantly lower than in controls (17% versus 45%)
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• adult females show a ~30% reduction in ovary size relative to control females
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• in whole ovaries, mRNA levels of Gdf9 and Bmp15 are nearly undetectable, whereas mRNA levels of Bmp6, Kit, and Kitl are significantly increased relative to control ovaries
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a small percentage of mutants survive up to weaning age
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• most mutants die at birth but some survive up to weaning age
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• mice surviving to weaning exhibit characteristics of an evolving type I pleuropulmonary blastoma-like phenotype
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• embryos exhibit cysts in the proximal region of lung lobes
• Type I and II pneumocytes, but not club and ciliated cells, are present along the cystic epithelium
• P21 lungs show multiocular cysts and variable septal thickness, small mesenchymal cells within the cyst walls, high proliferation levels of mesenchymal cells within the cystic wall
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• increase in proliferation in E18.5 lungs
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• embryos exhibit cysts in the proximal region of lung lobes
• Type I and II pneumocytes, but not club and ciliated cells, are present along the cystic epithelium
• P21 lungs show multiocular cysts and variable septal thickness, small mesenchymal cells within the cyst walls, high proliferation levels of mesenchymal cells within the cystic wall
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| pleuropulmonary blastoma | DOID:4769 | J:239777 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all newborns die at birth from respiratory failure
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• E18.5 lungs show the presence of dilated fluid-filled sacs
• proliferation assays in lungs from E18.5 fetuses show an increase in cell proliferation in cystic walls
• neither secretory club (Clara) cells or ciliated cells are seen in cyst epithelium at E18.5 and cysts are lined by Type II and Type I pneumocytes
• a microvascular network is present in the parenchyma forming the cyst walls
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• E12.5 lungs show two hypoplastic lobes instead of the expected asymmetric pattern of 4 right lobes and 1 left lobe
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• apoptosis is increased in lung mesenchyme at E14.5
• E12.5 embryos cultured in vitro show increased apoptosis in the lung
• the addition of recombinant mouse SHH into the media rescues the increased apoptosis
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• E18.5 lungs exhibit a disorganized architecture
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• E18.5 lungs show the presence of dilated fluid-filled sacs
• proliferation assays in lungs from E18.5 fetuses show an increase in cell proliferation in cystic walls
• neither secretory club (Clara) cells or ciliated cells are seen in cyst epithelium at E18.5 and cysts are lined by Type II and Type I pneumocytes
• a microvascular network is present in the parenchyma forming the cyst walls
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• E12.5 lungs show two hypoplastic lobes instead of the expected asymmetric pattern of 4 right lobes and 1 left lobe
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• marker analysis indicates altered patterning and cell differentiation in the lung
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• branching morphogenesis in the lung is inhibited, however, distal epithelial cell differentiation is maintained
• E12.5 embryos cultured in vitro fail with branching of lung
• the addition of recombinant mouse SHH into the media does not rescue the branching defect
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• impairment of peribronchial smooth muscle differentiation as indicated by a lack of markers of airway smooth muscle differentiation around cysts
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• lung epithelium exhibits an abnormal stratified structure at E12.5
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• club (Clara) cells are scarce in the proximal airways
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• basal cells are distributed irregularly along the proximal airways of embryos, although the number of basal cells is not altered
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• goblet cells are scarce in the proximal airways
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• trachea is thinner with disorganized cartilage rings
• trachea is longer
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• ciliated cells are scarce in the airways
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• trachea shows abnormal formation of cartilage rings
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• reduction in lung epithelium proliferation at E12.5
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• apoptosis is increased in lung mesenchyme at E14.5
• E12.5 embryos cultured in vitro show increased apoptosis in the lung
• the addition of recombinant mouse SHH into the media rescues the increased apoptosis
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• differentiation of airway myofibroblasts is impaired
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• trachea shows abnormal formation of cartilage rings
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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 04/23/2024 MGI 6.23 |
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