Analysis Tools|
Allele Symbol Allele Name Allele ID |
Shhtm1Amc targeted mutation 1, Andrew P McMahon MGI:1934261 |
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| Summary |
18 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E9.5
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• all ventral vertebral components are absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• none of the homozygotes surviving to term live beyond this time
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• only ~50% of homozygotes survive to term
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• at 18.5 dpc, homozygotes display a smaller gastrointestinal tract relative to wild-type
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• at 18.5 dpc, all homozygotes have an imperforate anus
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• at 18.5 dpc, all homozygotes display an obvious malrotation of the gut, in the absence of reversions in gut situs
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• at 18.5 dpc, the mutant esophagus tissue is reduced and fused to the trachea
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• at 18.5 dpc, the mutant trachea and esophagus are fused to form a fistula-like fusion of the alimentary and respiratory tract
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• at 18.5 dpc, the mutant colon ends in a blind dilation that is not fused to the surface ectoderm; however, no aganglionic colon is observed
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• at 18.5 dpc, homozygotes show a 21% reduction in thickness of the circular smooth muscle layer along the small intestine; however, no intestinal dilation is observed
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• at 18.5 dpc, 67% of homozygotes display occlusion of the duodenum by overgrown villi, resembling duodenal stenosis
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• at 18.5 dpc, the mutant glandular epithelium displays histologic features that resemble intestinal metaplasia
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• at 18.5 dpc, all homozygotes display a significant overgrowth of stomach epithelium, in spite of normal rates of cell proliferation in the stomach
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• at 18.5 dpc, all homozygotes exhibit intestinal transformation of the stomach epithelium
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• poorly vascularized airways
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• at 18.5 dpc, the mutant trachea and esophagus are fused to form a fistula-like fusion of the alimentary and respiratory tract
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• in mutant trachea, the layer of smooth muscle that normally lines the proximal epithelium is absent
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• although left and right buds form, mutant lungs fail to undergo lobation or subsequent extensive branching
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• at 12.5 dpc, mutant lungs fail to branch or display one abnormally positioned branch point
• in organ culture, mutant lungs fail to grow or branch extensively; bronchial mesenchyme cells detach from the endodermal epithelium
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• by 18.5 dpc, only a few air sacs are present
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• mutant lungs fail to undergo lobation
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• at 18.5 dpc, homozygotes display a rudimentary respiratory organ with a few large, poorly vascularized airways
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• in mutant trachea, cartilaginous rings are present but appear disorganized
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• at 18.5 dpc, homozygotes show a 21% reduction in thickness of the circular smooth muscle layer along the small intestine
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• in mutant trachea, the layer of smooth muscle that normally lines the proximal epithelium is absent
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• at 18.5 dpc, mutant embryos have an overall reduced size relative to wild-type embryos
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• at 18.5 dpc, 85% of homozygotes exhibit an annular pancreas
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• at 18.5 dpc, homozygotes show excessive and abnormally located neurons that differentiate under the epithelium and into the villi
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• in mutant trachea, cartilaginous rings are present but appear disorganized
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• at 18.5 dpc, mutant hair follicles at stage 1-2 show a 40% decline in keratinocyte proliferation relative to wild-type, with no difference observed in apoptosis
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• skin grafts of mutant skin (epidermis and dermis) transplanted onto nude mice generate hairless, pigmented skin
• some keratinized pigmented material resembling hair matrix is present, but no hair is formed
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• skin grafts of mutant skin transplanted onto nude mice show abnormal ingrowth of the epidermis and consequently aberrant morphogenesis of the hair shaft
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• at 15.5 dpc, mutant hair follicles form a smaller hair plug; however, epidermal expansion into the dermis and dermal condensation of mesenchyme at the base of the hair plug occur normally
• at 15.5 dpc, wild-type hair follicles have progressed to stage 2, whereas mutant follicles at still at stage 1 or 0
• skin grafts of mutant skin transplanted onto nude mice exhibit giant disorganized hair-bud-like structures, some with hair-shaft-like material, in the vicinity of epidermis
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• homozygotes display delayed hair folliculoenesis: embryonic follicles are arrested shortly after induction and fail to progress beyond stage 2
• at 18.5 dpc, mutant hair follicles at stage 1-2 show a 40% decline in keratinocyte proliferation relative to wild-type; no difference is observed in apoptosis
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• mutant hair follicles fail to initiate development of the inner root sheath from the hair matrix (stages 3-5)
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• mutant hair buds fail to exhibit an obvious polarity; in contrast, wild-type follicles show a typical polarized development along the anterior-posterior axis
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• by 18.5 dpc, homozygotes show a severe reduction in the number of induced hair follicles relative to wild-type mice
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• skin grafts of mutant skin transplanted onto nude mice exhibit a reduced dermal fat layer
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• mutant skin displays only a rudimentary dermal papilla, indicating abnormal epithelial-mesenchymal interactions
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• skin grafts of mutant skin transplanted onto nude mice display hyperplasia and abnormal keratin expression in interfollicular epidermis
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• skin grafts of mutant skin transplanted onto nude mice exhibit a thickened epidermis with large disorganized ingrowths
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• poorly vascularized airways
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• at 18.5 dpc, mutant hair follicles at stage 1-2 show a 40% decline in keratinocyte proliferation relative to wild-type, with no difference observed in apoptosis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygous mutants die shortly after birth
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• a single tracheal-esophageal tube lacking any cartilaginous rings is seen
• this tube is lined with stratified squamous epithelium dorsally and columnar airway epithelium ventrally
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• reduced stomach size, particularly in the fore-stomach, at E12.5
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• a single tracheal-esophageal tube lacking any cartilaginous rings is seen
• this tube is lined with stratified squamous epithelium dorsally and columnar airway epithelium ventrally
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• branching morphogenesis is impaired with the single tracheal-esophageal tube connected to the proximal and peripheral lung structures
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• lungs are severely hypoplastic
• the anterior closed pharynx connects to a posteroir bilobed lung in which the central airway is surrounded only by rudimentary peripheral saccules
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• peripheral tubules are absent
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• the pharynx is closed anteriorly
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• the cartilaginous rings that normally surround the trachea are absent
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• the cartilaginous rings that normally surround the trachea are absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E13.5 and E15.5, homozygotes show a severely reduced, dysplastic remnant of the submandibular salivary gland (SMG)
• at E18.5, homozygotes display a slightly larger but severely pedomorphic dysplastic SMG consisting of largely undifferentiated epithelium with very few branches surrounded by undifferentiated mesenchyme (reminiscent of the Pseudoglandular stage at ~E14)
• in vitro, Pseudoglandular (E14) stage SMG primordia cultured in the presence of Shh show a ~2-fold increase in epithelial branching compared with Initial Bud (E13) stage primordia, indicating a stage-specific difference in Shh-stimulated branching
• cyclopamine-treated explants show a marked reduction in branching and epithelial cell proliferation; notably FGF8-supplemented explants exhibit a significant 58% increase in branching morphogenesis compared with cyclopamine treatment alone
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• at E13.5 and E15.5, homozygotes show a severely reduced, dysplastic remnant of the submandibular salivary gland (SMG)
• at E18.5, homozygotes display a slightly larger but severely pedomorphic dysplastic SMG consisting of largely undifferentiated epithelium with very few branches surrounded by undifferentiated mesenchyme (reminiscent of the Pseudoglandular stage at ~E14)
• in vitro, Pseudoglandular (E14) stage SMG primordia cultured in the presence of Shh show a ~2-fold increase in epithelial branching compared with Initial Bud (E13) stage primordia, indicating a stage-specific difference in Shh-stimulated branching
• cyclopamine-treated explants show a marked reduction in branching and epithelial cell proliferation; notably FGF8-supplemented explants exhibit a significant 58% increase in branching morphogenesis compared with cyclopamine treatment alone
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• while organ size is reduced to various degrees, all organs are present and correctly localized unlike in Shh-null mice
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• body weight of mice is greatly reduced compared to controls
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• brain weight is less than controls
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• olfactory bulb is disproportionately smaller than controls
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• cerebella is 50% smaller than controls, which is disproportionately smaller compared to other organs
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• eyes are small but are well-spaced unlike Shh-null mice that have improperly spaced eyes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• compound heterozygotes for Shhtm1Amc and Shhtm2Amc are viable and fertile with no discernible phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at P1, digits appear posteriorized comparing relative digit length and phalanx morphology with that of controls Shhtm1Amc/Shhtm2Amc Tg(Prrx1-cre)1Cjt mice
• however, mice have the same number of digits as in Shhtm1Amc/Shhtm2Amc Tg(Prrx1-cre)1Cjt mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die at birth
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• glial progenitor cells are absent from the optic nerves
• optic nerves are thin, hypocellular and surrounded by a thick layer of pigmented cells that are continuous with the pigment epithelium but extend variable distances towards the ventral diencephalons
• optic nerves lack Ntn1- and Pax2-expressing astrocytes and are instead populated by pigment cells interspersed with retinal ganglion cell axons
• the distal two thirds of optic nerves lack Pax2-expressing glial cells
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• while the optic cup and proximal optic stalk are normal initially, the optic primordial lags behind that in wild-type mice resulting in small eyes
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• as early as E13
(J:83530)
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• eyelids fail to close throughout gestation
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• retinas are extensively disorganized
• the outer retinal layer contains many rosettes containing retinal progenitor cells and immature photoreceptors and, in some cases, cells extrude into the subretinal space
• lamination defects are observed at E17
• however, rosettes do not disrupt the retinal pigment epithelium
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• retinal ganglion cell (RGC) axons exhibit guidance defects and are misrouted to the sub-retinal spaces in several regions of the retina and at the optic disc
• RGC axons that reach the optic disc never enter the optic nerve and instead remain coiled in the sub-retinal space
• however, dorsal ventral patterning and optic fissure closure are normal
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• mice exhibit mild to severe holoprosencephaly
(J:78708)
• some mice exhibit holoprosencephaly
(J:83530)
• however, development and expression of ventral markers in the hypothalamus are normal
(J:83530)
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• glial progenitor cells are absent from the optic nerves
• the distal two thirds of optic nerves lack Pax2-expressing glial cells
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• retinal ganglion cell (RGC) axons exhibit guidance defects and are misrouted to the sub-retinal spaces in several regions of the retina and at the optic disc
• RGC axons that reach the optic disc never enter the optic nerve and instead remain coiled in the sub-retinal space
• however, dorsal ventral patterning and optic fissure closure are normal
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• glial progenitor cells are absent from the optic nerves
• optic nerves are thin, hypocellular and surrounded by a thick layer of pigmented cells that are continuous with the pigment epithelium but extend variable distances towards the ventral diencephalons
• optic nerves lack Ntn1- and Pax2-expressing astrocytes and are instead populated by pigment cells interspersed with retinal ganglion cell axons
• the distal two thirds of optic nerves lack Pax2-expressing glial cells
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• as early as E13
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at the newborn stage, cortical glomerular density is increased by 24% while glomerular density of the whole kidney is increased by 26% relative to that in wild-type controls
• however, no gross differences in glomerular size are observed
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• newborn mice exhibit a 40% reduction in glomerular number
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• at the newborn stage, cortical volume is reduced by 51%
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• at 4 months of age, most of the inner medulla is lost in hydronephric kidneys
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• at 4 months of age, most of the inner stripe of the outer medulla is lost in hydronephric kidneys
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• at the newborn stage, medullary volume is reduced by 46%
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• at 4 months of age, 50% of mice exhibit hydronephrosis
• however, no hydronephrosis is detected in newborn pups
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• neonatal kidneys are 52% smaller than wild-type kidneys
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• at E14.5, fewer mesenchymal cells line the ureteral epithelium relative to wild-type controls
• at E14.5, the mitotic index of the proximal and distal ureter mesenchyme is ~50% of that in wild-type controls, indicating reduced cell proliferation
• however, no differences in ureteral mesenchyme apoptosis are observed by TUNEL analysis
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• a delay in smooth muscle differentiation is observed along the proximodistal axis of the ureter
• at E15.0, no smooth muscle alpha-actin protein (SMA), an early marker of smooth muscle differentiation, is detected at any axial level of the ureter, unlike in wild-type embryos where SMA is detected in the proximal ureter
• at the newborn stage, SMA is detected in the proximal ureter but, in contrast to wild-type controls, almost no SMA is detected in the distal-most part of the ureter, closest to the bladder
• in addition, mesenchymal cells in the distal ureter are not as condensed as those in wild-type controls
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• newborn mice exhibit prominent hydroureter, usually more severe in the proximal region
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• at E14.5, ureter length is ~21% shorter than in wild-type controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutant newborns die within a day after birth
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• at birth, mutant pups display flattened skulls
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• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent
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• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla
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• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted
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• at birth, incisors are only 5% of normal size
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• mandibular molars display a single irregular cusp; additional cusp formation is disrupted
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• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla
• maxillary molars are less affected than mandibular molars which are 25% of normal size
• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed
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• the dental cord is absent in mandibular molars
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• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology
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• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars
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• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors
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• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped
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• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture
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• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped
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• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization
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• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced
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• the rudimentary palatal shelves are spaced widely apart
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• the palatal shelves fail to develop beyond rudimentary processes
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• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart
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| N |
• at birth, mutant pups possess normal skeletal elements; the upper and lower jaws are of normal length
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• at birth, mutant pups display flattened skulls
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• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent
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• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla
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• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted
|
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• at birth, incisors are only 5% of normal size
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• mandibular molars display a single irregular cusp; additional cusp formation is disrupted
|
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• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla
• maxillary molars are less affected than mandibular molars which are 25% of normal size
• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed
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• the dental cord is absent in mandibular molars
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• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology
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• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars
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• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors
|
|
• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped
|
|
• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture
|
|
• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped
|
|
• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization
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• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced
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• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced
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• the rudimentary palatal shelves are spaced widely apart
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• the palatal shelves fail to develop beyond rudimentary processes
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• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart
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• at birth, mutant pups are observed gulping air
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• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent
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• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla
|
|
• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted
|
|
• at birth, incisors are only 5% of normal size
|
|
• mandibular molars display a single irregular cusp; additional cusp formation is disrupted
|
|
• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla
• maxillary molars are less affected than mandibular molars which are 25% of normal size
• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed
|
|
• the dental cord is absent in mandibular molars
|
|
• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology
|
|
• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars
|
|
• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors
|
|
• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped
|
|
• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture
|
|
• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped
|
|
• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture
• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization
|
|
• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced
|
|
• the rudimentary palatal shelves are spaced widely apart
|
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• the palatal shelves fail to develop beyond rudimentary processes
|
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• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• compound mutants die around birth unlike Disp1 single homozygotes which die before E9.5
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• midline defects in the frontal nasal process are seen, however many of the developmental defects seen in Disp1 single homozygotes are rescued in the compound mutants
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants die shortly after birth when doxycycline is administered throughout gestation
• in the absence of doxycycline treatment mutants are viable
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• lung and airway malformations are seen when doxycycline exposure occurs between E0.5 and E13.5
• doxycycline exposure after E13.5 does not result in any pulmonary or extrapulmonary abnormalities
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• branching morphogenesis is abnormal with doxycycline treatment
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• lungs are hypoplastic after doxycycline exposure
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• peripheral tubule dilation is seen with doxycycline exposure
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• tracheal abnormalities are seen
• doxycycline exposure before E8.5 or after E13.5 does not result in tracheal abnormalities
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• the cartilaginous rings that normal surround the trachea are malformed with incomplete rings found along the ventral midline after doxycycline exposure
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• fewer cartilaginous rings are seen with doxycycline treatment
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• the cartilaginous rings that normal surround the trachea are malformed with incomplete rings found along the ventral midline after doxycycline exposure
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• fewer cartilaginous rings are seen with doxycycline treatment
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• decreased adrenal aldosterone levels
• decrease is less severe than in mice homozygous for Nr5a1tm1.1Hain alone
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 80% of mice fail to gain weight and die by 7 days of age
• 20% survive to adulthood
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• normal weight at birth
• 80% fail to gain weight after birth and die by 7 days of age
• the 20% who survive remain remain small, 33% of normal weight
|
| N |
• normal suckling response
• dead pups often have milk in their stomach
• well coordinated motor control
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| N |
• normal blood glucose
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the reduction of pMN and pV2 progenitors results in a decrease in motorneuron precursors that are also abnormally positioned at the ventral midline
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• the floor plate is absent and the ventral midline has reduced numbers of the ventral most neural progenitors
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• the floor plate is absent and the ventral midline has reduced numbers of the ventral most neural progenitors
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• the reduction of pMN and pV2 progenitors results in a decrease in motorneuron precursors that are also abnormally positioned at the ventral midline
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no heart looping but normal embryo turning
|
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• ventral midline of neural tube occupied by a reduced population of motor neuron progenitors
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| holoprosencephaly 3 | DOID:0110875 |
OMIM:142945 |
J:92058 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants die shortly after birth even when doxycycline is administered throughout gestation
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• a significant increase in peripheral lung tissue and relatively normal branching morphogenesis are seen with doxycycline treatment; however, lobulation of the lungs is not restored
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• doxycycline treatment does not restore tracheal-bronchial cartilaginous ring formation
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• doxycycline treatment does not restore tracheal-bronchial cartilaginous ring formation
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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 11/19/2024 MGI 6.24 |
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