Analysis Tools
renal/urinary system
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• when Cdkn1ctm2.1Kei is inherited maternally, mice exhibit atrophy of the renal papilla compared with control mice
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Allele Symbol Allele Name Allele ID |
Tg(EIIa-cre)C5379Lmgd transgene insertion C5379, Laboratory of Mammalian Genes and Development, Heiner Westphal MGI:2137691 |
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| Summary |
55 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• when Cdkn1ctm2.1Kei is inherited maternally, mice exhibit atrophy of the renal papilla compared with control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Skull analysis of Fgfr2tm2Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 and Fgfr2tm1Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 mice
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• as determined by marker expression, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
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• osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
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• the suture between the horizontal plate of the palatine bone and palatal process of the maxilla is fused unlike in wild-type mice
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• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
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• the inter-premaxillary suture appears patent unlike in wild-type mice
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• mice exhibit premature closure of the premaxillary-maxillary sutures unlike wild-type mice
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• skull height is increased compared to in wild-type mice
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• mice exhibit shorter maxilla than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
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• the nasal region is shorter than in wild-type mice
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• at P0, mice exhibit coronal suture presynostosis or synostosis unlike wild-type mice
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• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones unlike wild-type mice
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• the suture between the horizontal plate of the palatine bone and palatal process of the maxilla is fused unlike in wild-type mice
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• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
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• the inter-premaxillary suture appears patent unlike in wild-type mice
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• mice exhibit premature closure of the premaxillary-maxillary sutures unlike wild-type mice
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• skull height is increased compared to in wild-type mice
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• mice exhibit shorter maxilla than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
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• the nasal region is shorter than in wild-type mice
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• the most posterior portion of the palate is reduced compared to in wild-type mice
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• the midline suture between the horizontal plates of the palatine bones is patent compared to controls
• in 1 of 8 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 7 of 12 wild-type mice
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• mice exhibit shorter palate than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
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• the most posterior portion of the palate is reduced compared to in wild-type mice
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• the midline suture between the horizontal plates of the palatine bones is patent compared to controls
• in 1 of 8 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 7 of 12 wild-type mice
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• mice exhibit shorter palate than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
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• as determined by marker expression, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
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• osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
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• intercanthal distance is reduced compared to in wild-type mice
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• the nasal region is shorter than in wild-type mice
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• the most posterior portion of the palate is reduced compared to in wild-type mice
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• the midline suture between the horizontal plates of the palatine bones is patent compared to controls
• in 1 of 8 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 7 of 12 wild-type mice
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• mice exhibit shorter palate than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
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• the nasal region is shorter than in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Skeletal abnormalities in Fgfr2tm2Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 mice
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• almost half of all mice die within 24 to 36 hours of birth
• most mice die within 2 weeks of birth with very few surviving to 3 weeks
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• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
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• with proximate osteogenic fronts and cellular disorganization at P0
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• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice
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• the anterior and overall length of the cranial base is decreased compared to in wild-type mice
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• skull height is increased compared to in wild-type mice
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• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
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• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
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• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
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• at P10
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• at P10
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• at P10
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• at P10
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• at P0, all mice exhibit bony fusions of the sternum unlike wild-type mice
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• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
• at E17.5 to P0, the physis hypertrophic zone is disorganized compared to in wild-type mice
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• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
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• at E19, osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
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• mice exhibit unilateral or bilateral coronal synostosis unlike wild-type mice
• at P0, mice exhibit coronal suture presynostosis unlike wild-type mice
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• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
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• with proximate osteogenic fronts and cellular disorganization at P0
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• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice
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• the anterior and overall length of the cranial base is decreased compared to in wild-type mice
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• skull height is increased compared to in wild-type mice
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• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
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• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
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• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
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• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice
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• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
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• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice
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• beginning at P5
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• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice
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• at P10
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• at P10
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• at P10
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• at P10
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• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
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• at E19, osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
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• intercanthal distance is reduced compared to in wild-type mice
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• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acrocephalosyndactylia | DOID:12960 |
OMIM:101200 |
J:158773 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos die during mid-gestation similar to Mfn2tm1Dcc homozygous embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos die during mid-gestation similar to Mfn1tm1Dcc homozygous embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit unilateral urinary tract abnormalities, including short ureter, megaureter, and hydronephrosis
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• kidney parenchyma is replaced by large cysts
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• ureterovesical junctions associated with obstructions lead to megaureter and hydronephrosis
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• in some males the ureter is connected to the vas deferens resulting in massive hydronephrosis
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• ureterovesical junctions associated with obstructions lead to megaureter and hydronephrosis
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• 7 of 10 mice exhibit bilateral ureterovesical junction defects, where one UVJ is typically located laterally and cephalad in the bladder (commonly associated with reflux in man) whereas the contralateral UVJ is located caudad in the bladder or even ectopically in the urethra
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• the caudal UVJ location is associated with obstruction, leading to megaureter and severe hydronephrosis
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• in some males the ureter is connected to the vas deferens resulting in massive hydronephrosis
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• kidney parenchyma is replaced by large cysts
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• LPS-induced alternative pathway (AP) complement activation is impaired unlike in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit impaired hippocampal development compared with wild-type mice
• however, positioning of hippocampal neurons is normal by P30
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• mice exhibit loosely packed neurons in the granule cell layer of the dentrate gyrus compared with wild-type mice
• the dentate gyrus exhibit increased neuron numbers in the polymorphic layer compared with in wild-type mice
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• mice exhibit loosely packed neurons in the granule cell layer of the dentrate gyrus compared with wild-type mice
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• neurons exhibit impaired stabilization of microtubule organization in growth cones compared with wild-type cells
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• at E18, Cux1+ neurons are mislocalized in the deep layers of the lateral somatosensory cortex compared to in wild-type mice
• mice exhibit more loosely arrayed neurons with irregular inner and outer borders in the C1 pyramidal layer compared to in wild-type mice
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• reduced Cux1+ cells
• however, the number of Cux1+ neurons are normal at P14 and during adulthood
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• Tbr1+ neurons in the deep layer is increased compared to in wild-type mice
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• in a Morris water maze
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• in a Morris water maze
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in a Morris water maze
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• in a Morris water maze
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• neurons exhibit impaired stabilization of microtubule organization in growth cones compared with wild-type cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die within 8 hours of birth
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die around P20-22 if left unaided
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• acetylcholine release is insensitive to 200 nM omega-Agatoxin-IVA in neuromuscular junctions
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• about a 40% reduction in quantal content in neuromuscular junctions
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• at P20
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• between E8.5 and E11.5 all Cre positive double mutants appear to be partially resorbed empty decidual masses
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants with complete recombination die within 24 -36 hours of birth; however, 2 mutants with only partial recombination survived to adulthood
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• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
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• presence of proteinaceous fluid in the alveoli is observed
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• multifocal and acute bronchiolectasis with mild dilation of the bronchioles are seen in mutants with complete recombination
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• moderate and diffuse atelectasis with lack of alveolar expansion and the presence of proteinaceous fluid in the alveoli is observed
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• a complete cartilage sleeve surrounds the trachea in mutants with complete recombination
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• seen in mutants with complete recombination
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• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
• at E18.5 in mutants with complete recombination no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
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• in mutants with only partial recombination at 10 months of age multiple interfrontal suture defects are seen and the fronto-premaxillary, premaxillary-maxillary, and nasal-frontal sutures are obliterated
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• at P1 in mutants with complete recombination the space between the osteogenic fronts is increased
• at E18.5 in mutants with complete recombination increased numbers of proliferating cells are seen between the osteogenic fronts and no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
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• at E16.5 and E18.5 in mutants with complete recombination ectopic cartilage is found along all (E16.5) or over half (E18.5) of the length of the suture
• at E18.5 in mutants with complete recombination the space between the osteogenic fronts is decreased and at P1 the osteogenic fronts are very close and osteoid is deposited between the fronts prior to synostosis
• at E18.5 and P1 in mutants with complete recombination twice as many proliferating cells are seen and some of these cells are abnormally distributed in the space between the osteogenic fronts
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
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• increased cartilage is found on the basicranium at birth in mutants with complete recombination
• structures of the basicranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
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• skull height is significantly reduced in mutants with complete recombination
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• skull length is significantly reduced in mutants with complete recombination
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• skull length and height are significantly reduced in mutants with complete recombination
• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
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• the interparietal bone is compressed superiorly at the lambdoid suture in mutants with only partial recombination at 10 months of age
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• the parietal bones have an obvious superior bulge in mutants with only partial recombination at 10 months of age
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• the temporal process of the zygomatic bone is fused to the zygomatic process of the temporal bone in mutants with complete recombination
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• structures of the neurocranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
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• dysmorphic angular process in mutants with only partial recombination at 10 months of age
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• the mandible is very small in mutants with only partial recombination at 10 months of age
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• the frontal process of the maxilla has an abnormally large sinus and bowing of the medial wall in mutants with only partial recombination at 10 months of age
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• the zygomatic process is bowed more laterally in mutants with only partial recombination at 10 months of age
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• seen in mutants with complete recombination
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• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
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• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones
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• the nasal cartilage is thickened
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• a complete cartilage sleeve surrounds the trachea in mutants with complete recombination
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• in mutants with complete recombination, more prominent cartilage mineralization is seen in the long bones at P1; however, limb lengths are proportional to body size and no syndactyly is seen
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• in mutants with complete recombination, the hypertrophic zone of the growth plate of the long bones is subtly irregular
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• seen in 6 of 9 mutants with complete recombination
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• at P1 in mutants with complete recombination synostosis with osteoid deposition is seen
(J:101174)
• at P0, mice exhibit variation in the pattern and degree of coronal suture closure compared with wild-type mice
(J:156940)
• mice exhibit unilateral or bilateral coronal suture synostosis unlike wild-type mice
(J:156940)
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• at P1 in mutants with complete recombination synostosis with osteoid deposition is seen
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• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
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• structures of the face are about 40-50% smaller in mutants with only partial recombination at 10 months of age
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• malformations of the palate are seen in all mutants
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• in mutants with only partial recombination at 10 months of age head shape is abnormal
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• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
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• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination
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• at birth in mutants with complete recombination body weight is about 83% that of wild-type littermates
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• in mutants with only partial recombination at 10 months of age body weight is 29% that of wild-type littermates
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• in mutants with only partial recombination at 10 months of age body length is 68% that of wild-type littermates
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• mild dilation of the atria is seen in mutants with complete recombination
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• mild dilation of the great vessels at the base of the heart is seen in mutants with complete recombination
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• diffuse lymphoid necrosis and apoptosis of variable severity is seen in mutants with complete recombination
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• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones
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• multifocal and acute bronchiolectasis with mild dilation of the bronchioles are seen in mutants with complete recombination
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• 4 of 10 mice exhibit severe brain asymmetry unlike in wild-type mice
• 1 of 10 mice exhibit mild brain asymmetry unlike in wild-type mice
• rostrocaudal brain length is decreased compared to in wild-type mice
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• mild hydroencephaly with enlarged ventricles is present in mutants with complete recombination
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• in 2 of 10 mice
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• cerebral height is increased compared to in wild-type mice
• mice exhibit cerebral asymmetry to varying degrees compared with wild-type mice
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• arched in 2 of 10 mice
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• in mutants with only partial recombination at 10 months of age multiple interfrontal suture defects are seen and the fronto-premaxillary, premaxillary-maxillary, and nasal-frontal sutures are obliterated
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• at P1 in mutants with complete recombination the space between the osteogenic fronts is increased
• at E18.5 in mutants with complete recombination increased numbers of proliferating cells are seen between the osteogenic fronts and no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
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• at E16.5 and E18.5 in mutants with complete recombination ectopic cartilage is found along all (E16.5) or over half (E18.5) of the length of the suture
• at E18.5 in mutants with complete recombination the space between the osteogenic fronts is decreased and at P1 the osteogenic fronts are very close and osteoid is deposited between the fronts prior to synostosis
• at E18.5 and P1 in mutants with complete recombination twice as many proliferating cells are seen and some of these cells are abnormally distributed in the space between the osteogenic fronts
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
|
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• increased cartilage is found on the basicranium at birth in mutants with complete recombination
• structures of the basicranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
|
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• skull height is significantly reduced in mutants with complete recombination
|
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• skull length is significantly reduced in mutants with complete recombination
|
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• skull length and height are significantly reduced in mutants with complete recombination
• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
|
|
• the interparietal bone is compressed superiorly at the lambdoid suture in mutants with only partial recombination at 10 months of age
|
|
• the parietal bones have an obvious superior bulge in mutants with only partial recombination at 10 months of age
|
|
• the temporal process of the zygomatic bone is fused to the zygomatic process of the temporal bone in mutants with complete recombination
|
|
• structures of the neurocranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
|
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• dysmorphic angular process in mutants with only partial recombination at 10 months of age
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• the mandible is very small in mutants with only partial recombination at 10 months of age
|
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• the frontal process of the maxilla has an abnormally large sinus and bowing of the medial wall in mutants with only partial recombination at 10 months of age
|
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• the zygomatic process is bowed more laterally in mutants with only partial recombination at 10 months of age
|
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• seen in mutants with complete recombination
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• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
|
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• structures of the face are about 40-50% smaller in mutants with only partial recombination at 10 months of age
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• malformations of the palate are seen in all mutants
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• in mutants with only partial recombination at 10 months of age head shape is abnormal
|
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• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
|
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• diffuse lymphoid necrosis and apoptosis of variable severity is seen in mutants with complete recombination
|
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• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones
|
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• malformations of the palate are seen in all mutants
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• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination
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• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination
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• mild dilation of the great vessels at the base of the heart is seen in mutants with complete recombination
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• presence of proteinaceous fluid in the alveoli is observed
|
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• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
• at E18.5 in mutants with complete recombination no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
|
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• diffuse lymphoid necrosis and apoptosis of variable severity is seen in mutants with complete recombination
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acrocephalosyndactylia | DOID:12960 |
OMIM:101200 |
J:101174 , J:156940 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• tissue glucocerebrosidase activity is reduced to ~30% of control levels except in spleen (38%) and peripheral white cells (45%)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• genotyping more than 100 embryos from intercrosses of EIIa-cre hemizyogus floxed heterozygotes found no null homozygotes at E8.5 indicating complete embryonic lethality of post-cre null allele
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased perinatal lethality
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• high level of blood cells lacking glycosylphosphatidylinositol anchors
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• level of RBC lacking glycosylphosphatidylinositol anchors highest at birth (up to 53%) and declining over 4 weeks to around 4%
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• elevated numbers of reticulocytes
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• RBC half life only 50% of normal
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• increased susceptibility to lytic activity of activated complement
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• orofacial abnormalities when cre recombination levels are highest
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• when cre recombination levels are highest
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• unable to suckle when cre recombination levels are highest
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• when cre recombination levels are highest
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• orofacial abnormalities when cre recombination levels are highest
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• when cre recombination levels are highest
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Trp53 deficiency does not result in significant rescue of the embryonic lethality seen in Bccip deficiency; ratio of viable double transgenic to wild-type offspring is not increased in the Trp53-null or heterozygous background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at P2 mice have a small or absent milk spot and most die during the first postnatal week with some surviving to P19
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• at P4
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• at P4
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• some distortion in the normal relationship of the forebrain and hippocampus
• islands of Calleja are absent
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• forebrain is smaller and volumetrically reduced by about 40% in the striatum with no change in cortical thickness
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• hypercellular stratum with frequent condensed nuclear bodies
• mice have an increase apoptotic striatum cells
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• some distortion in the normal relationship of the forebrain and hippocampus
• hippocampus is displayed anteriorly
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• increase in reactive gliosis in the lateral stratum and along the corpus callosum
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• neuropeptides substance P and dynorphin are absent
|
|
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice
|
|
• mice fail to right after spontaneous falls
|
|
• frequent falls at P2 some due to dystonia while other falls are erratic, violent, intrusive and associated with attempted movement or tactile stimulation
• falls are more myoclonic jerks than ataxia
|
|
• mice have an abnormal posture when at rest
|
|
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice
|
|
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice
|
|
• at P2 mice exhibit periodic breathing that is resolved in older pups
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• out of 13 litters only 3 males were recovered and these had a low level of mosaicism
|
|
|
• decreased hair growth in survivors
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| focal dermal hypoplasia | DOID:2120 |
OMIM:305600 |
J:186934 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• out of 13 litters only 3 males were recovered and these had a low level of mosaicism
|
|
|
• decreased hair growth in survivors
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| focal dermal hypoplasia | DOID:2120 |
OMIM:305600 |
J:186934 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• Background Sensitivity: no heterozygous embryos after E12.5
|
|
• pharyngeal arches remain open
|
|
• small and embryonic development is delayed at E10.5
|
|
• less visible vasculature
|
|
• shortened face in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
• smaller bone area in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
• shortened face in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
• small and embryonic development is delayed at E10.5
|
|
• in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• although born at the expected ratio, homozyotes gasp, suckle poorly and die
|
|
• gasping after birth
|
|
• little or no milk in pups' stomachs
|
|
• suckle poorly
|
|
• complete or partial cleft palate in all E18.5 embryos and in new born pups
|
|
• complete or partial cleft palate in all E18.5 embryos and in new born pups
|
|
• complete or partial cleft palate in all E18.5 embryos and in new born pups
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• embryos die by midgestation
|
|
• embryos display hematopoeitic deficiency
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• Background Sensitivity: no heterozygous embryos after E14.5
|
|
• small and embryonic development is delayed
|
|
• poor vascularization at E13.5-14.5
|
|
• eye is less developed at E13.5-14.5
|
|
• shortened face in mice surviving to adulthood (4/81)
|
|
• at E13.5-14.5
|
|
• at E13.5-14.5
|
|
• in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
• smaller bone area in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
• shortened face in mice surviving to adulthood (4/81)
|
|
• at E13.5-14.5
|
|
• at E13.5-14.5
|
|
• in mice surviving to adulthood (4/81)
|
|
• small and embryonic development is delayed
|
|
• in mice surviving to adulthood (4/81)
|
|
• in mice surviving to adulthood (4/81)
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Sox11tm1.1Gan/Sox11tm1.1Gan Tg(EIIa-cre)C5379Lmgd/0 mutants display cleft palate with retardation to palatal shelf elevation
|
• 100% penetrance of craniofacial malformations
|
|
• reduction in Meckel cartilage size at E13.5
|
|
• the mandible shows decreased proliferation in mesenchymal cells in and around the Meckel cartilage at E13.5
|
|
• mandible is narrow and small
|
|
• reduction in mandibular length at E13.5
|
|
• a 25% reduction in palatal mesenchyme is seen at E13.5
• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5
|
|
• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation
• a 25% reduction in palatal mesenchyme is seen at E13.5
• a 19% reduction in palatal epithelial cells is seen at E13.5
• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5
• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion
|
|
• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5
|
|
• cleft lip in 70% of mutants
|
|
• complete clefting of the secondary palate
|
|
• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages
• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5
• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture
|
|
• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation
|
|
• a 25% reduction in palatal mesenchyme is seen at E13.5
• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5
|
|
• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation
• a 25% reduction in palatal mesenchyme is seen at E13.5
• a 19% reduction in palatal epithelial cells is seen at E13.5
• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5
• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion
|
|
• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5
|
|
• complete clefting of the secondary palate
|
|
• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages
• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5
• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture
|
|
• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation
|
|
• a 25% reduction in palatal mesenchyme is seen at E13.5
• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5
|
|
• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation
• a 25% reduction in palatal mesenchyme is seen at E13.5
• a 19% reduction in palatal epithelial cells is seen at E13.5
• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5
• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion
|
|
• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5
|
|
• cleft lip in 70% of mutants
|
|
• complete clefting of the secondary palate
|
|
• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages
• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5
• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture
|
|
• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation
|
|
• reduction in Meckel cartilage size at E13.5
|
|
• the mandible shows decreased proliferation in mesenchymal cells in and around the Meckel cartilage at E13.5
|
|
• mandible is narrow and small
|
|
• reduction in mandibular length at E13.5
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Weissenbacher-Zweymuller syndrome | DOID:4258 |
OMIM:261800 |
J:232434 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• half of mice die by weaning
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• widening of the intermaxillary suture
|
|
• increase in cartilaginous appearance of the presphenoid bone indicating reduced ossification of this bone
|
|
• fusion of the zygomatic arch at P0
|
|
• foreshortening of the nasal bone
|
|
• severe palatal bone dysplasia at P0 associated with a widening of the intermaxillary suture
• dysplasia of the palatine bone involves anterior curvature of the vertical processes and an overall porous appearance
|
|
• foreshortening of the nasal bone
|
|
• widening of the intermaxillary suture
|
|
• increase in cartilaginous appearance of the presphenoid bone indicating reduced ossification of this bone
|
|
• fusion of the zygomatic arch at P0
|
|
• foreshortening of the nasal bone
|
|
• severe palatal bone dysplasia at P0 associated with a widening of the intermaxillary suture
• dysplasia of the palatine bone involves anterior curvature of the vertical processes and an overall porous appearance
|
|
• poor cancellous bone formation of the cranial base
|
|
• fusion of the coronal suture at P0
|
|
• facial suture synostosis at P0, with fusion of the premaxillary-maxillary, nasal-frontal, and maxillary-palatine sutures
|
|
• fusion of the premaxillary-maxillary suture at P0
|
|
• fusion of the maxillary-palatine suture at P0
|
|
• fusion of the nasal-frontal suture at P0
|
|
• foreshortening of the nasal bone
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acrocephalosyndactylia | DOID:12960 |
OMIM:101200 |
J:228708 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Placenta abnormalities in Egfrtm1Dwt/Egfrtm1Dwt Tg(EIIa-cre)C5379Lmgd/0 mice
|
• at mid-gestation
|
|
• mice exhibit similar defects to those observed in Egfrtm1Mag homozygotes
• the numbers of trophoblasts and glycogen cells in the spongiotrophoblast is moderately to severely reduced compared to in wild-type mice
|
|
• mice exhibit similar defects to those observed in Egfrtm1Mag homozygotes
• the labyrinth is reduced in size and disorganized compared to in wild-type mice
|
|
• at mid-gestation
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• overall sperm count normal at P30 and 5 months
• decrease in the testicular sperm reserve at 2 months
|
|
|
• increased proportions of apoptotic and dead spermatocytes in the seminiferous tubules 24h after injection with DNA-damaging agent N-ethyl-N-nitrosourea (ENU) at 3 months
• higher levels of Trp53 protein in the testes 3 hours after ENU administration
• higher level of Ser15-phosphorylation of Trp53 in the testes 6 hours after ENU treatment
• increased level of apoptosis marker Bax in testes 6 hours after ENU treatment
|
|
|
• increased apoptosis in spermatocytes at P12
|
|
|
• reduction in the area, diameter and perimeter of the seminiferous tubules at 3 months
|
|
|
• P30 and earlier
• average testicular mass to body mass ratio was 16.6% lower from 2 months
|
|
|
• overall sperm count normal at P30 and 5 months
• decrease in the testicular sperm reserve at 2 months
|
|
|
• increased apoptosis in spermatocytes at P12
|
|
|
• reduction in the area, diameter and perimeter of the seminiferous tubules at 3 months
|
|
|
• P30 and earlier
• average testicular mass to body mass ratio was 16.6% lower from 2 months
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants with severe cranial abnormalities die within 20 days of birth, less severely affected mutants survive to adulthood
|
|
• midface hypoplasia
|
|
• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates
|
|
• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen
|
|
• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures
|
|
• development of the sagittal suture is slightly delayed
|
|
• significant shortening of the anterior-posterior axis
|
|
• calvarial bone formation is decreased
|
|
• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen
|
|
• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen
|
|
• the presphenoid bone is significantly shorter
|
|
• after P10 some mutants have slightly shorter columns of proliferating chondrocytes
|
|
• craniosynostosis is most pronounced in the coronal suture
|
|
• premature closure of the coronal suture is first seen around E18.5 with more significant overlap between the osteogenic fronts developing over time and fewer mesenchymal cells are found in the coronal suture at birth
|
|
|
• all surviving females are sterile
|
|
|
• only 1 male generated 2 litters when mated with a wild-type female
|
|
• cranial abnormalities vary in severity and the severely affected mutants die postnatally
|
|
• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen
|
|
• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures
|
|
• development of the sagittal suture is slightly delayed
|
|
• significant shortening of the anterior-posterior axis
|
|
• calvarial bone formation is decreased
|
|
• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen
|
|
• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen
|
|
• the presphenoid bone is significantly shorter
|
|
• midface hypoplasia
|
|
• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acrocephalosyndactylia | DOID:12960 |
OMIM:101200 |
J:101385 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• normal numbers of homozygous embryos are found at E12.5 but number of viable embryos is severely reduced at E13.5
|
|
• there is a lack of Schwann cells and Schwann cell precursors in DRGs
|
|
• there is a lack of Schwann cells and Schwann cell precursors in DRGs
|
|
• mutants exhibit defects in the atrioventricular valves
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no viable recombinants are found
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 15 of 21 embryos abnormal at E9.5 and E10.5
• mosaic animals were present and were healthy and fertile
• no homozygous mice born
|
|
|
• many embryos undergoing resorption by E9.5-E10.5
|
|
|
• gastrulation defects
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• no hemizygous mice born
• 15 of 21 embryos abnormal at E9.5 and E10.5
• mosaic animals were present and were healthy and fertile
|
|
|
• many embryos undergoing resorption by E9.5-E10.5
|
|
|
• gastrulation defects
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 15 of 21 embryos abnormal at E9.5 and E10.5
• mosaic animals were present and were healthy and fertile
• no homozygous mice born
|
|
|
• many embryos undergoing resorption by E9.5-E10.5
|
|
|
• gastrulation defects
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• no hemizygous mice born
• 15 of 21 embryos abnormal at E9.5 and E10.5
• mosaic animals were present and were healthy and fertile
|
|
|
• many embryos undergoing resorption by E9.5-E10.5
|
|
|
• gastrulation defects
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• 15 of 21 embryos abnormal at E9.5 and E10.5
• mosaic animals were present and were healthy and fertile
• no homozygous mice born
|
|
|
• many embryos undergoing resorption by E9.5-E10.5
|
|
|
• gastrulation defects
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• no hemizygous mice born
• 15 of 21 embryos abnormal at E9.5 and E10.5
• mosaic animals were present and were healthy and fertile
|
|
|
• many embryos undergoing resorption by E9.5-E10.5
|
|
|
• gastrulation defects
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| microphthalmia | DOID:10629 | J:80528 | ||
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice die shortly after birth similar to Inhbatm1Zuk homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice are born with at the expected Mendelian ratio with normal growth and organ development
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E8.5, 9 of 10 embryos are in the process of being reabsorbed
|
|
• germline homozygotes appear arrested at E6, they do not progress past the egg cylinder stage, and by morphological criteria lack mesoderm
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• some perinatal mortality but many survive
|
|
• 72% of control weight at 3 weeks of age, 68% at 6 weeks
|
|
• fetus at E19 or E20 weighs only 69% as much as comparable controls
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• embryos died at 12.5 days post-coitum with severe defects in erythropoiesis
|
|
• significant reduction in RBCs in the liver
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice do not develop developmental defects
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• lethality occurs before E11.5
|
|
• significant delay and abnormal development is observed at E6.5, evidenced by abnormal mass of embryonic tissues relative to controls
• embryos at E7.5 and E8.5 show significant developmental retardation
|
|
• elevated apoptosis is observed by E7.5 in mutant embryos, but at E6.5 there is little difference compared to controls
|
|
• growth of the inner cell mass is impaired in cultured mutant blastocysts compared to wild-type starting at culture day 3 (equivalent to E6.5 in vivo)
|
|
• no mesoderm differentiation is apparent at E7.5
|
|
• developmental arrest is observed at E11.5
|
|
• significant delay and abnormal development is observed at E6.5, evidenced by abnormal mass of embryonic tissues relative to controls
• embryos at E7.5 and E8.5 show significant developmental retardation
|
|
• development of the neural plate is not evident at E8.5
|
|
• development of the notochord is not evident at E8.5
|
|
• amniotic cavity does not develop
|
|
• elevated apoptosis is observed by E7.5 in mutant embryos, but at E6.5 there is little difference compared to controls
|
|
• the proliferation index of cells in embryonic tissues is slightly reduced at E6.5 relative to controls and reduction is significant by E7.5
|
|
• growth of the inner cell mass is impaired in cultured mutant blastocysts compared to wild-type starting at culture day 3 (equivalent to E6.5 in vivo)
|
|
• development of the neural plate is not evident at E8.5
|
|
• litters are significantly smaller (5.1 pups/litter) than wild-type controls (10.3/litter)
• the number of double-positive transgenic offspring is greatly reduced, but some are viable; however, some of these animals were shown to have lost the RNAi cassette spontaneously
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• defects are indistinguishable from those in Gna12tm1Citb
Gna13tm2.1Soff double homozygotes
|
|
• defects are indistinguishable from those in Gna12tm1Citb
Gna13tm2.1Soff double homozygotes
|
|
• defects are indistinguishable from those in Gna12tm1Citb
Gna13tm2.1Soff double homozygotes
|
|
• defects are indistinguishable from those in Gna12tm1Citb
Gna13tm2.1Soff double homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• high level of death associated with heart and brain defects at embryonic days 11.5 and 12.5
|
|
• high level of death associated with heart defects at embryonic days 11.5 and 12.5
|
|
• high level of death associated with brain defects at embryonic days 11.5 and 12.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in E15.5 chondrocytes
|
|
• E15.5 chondrocytes have a swollen appearance, massive expansion of the endoplasmic rediculum, and disruption of the golgi apparatus
|
|
• assessment of the humeri at E15.5 finds delayed formation of the primary ossificatiion center
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| achondrogenesis type IA | DOID:0080054 |
OMIM:200600 |
J:253969 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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