Analysis Tools
mortality/aging
|
• about two-thirds of the mice die before 4 weeks of age
|
|
Allele Symbol Allele Name Allele ID |
Ptprstm1Mtr targeted mutation 1, Michel L Tremblay MGI:2158757 |
||||||||||||||||||||||||||||||||||||||||
| Summary |
9 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• about two-thirds of the mice die before 4 weeks of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 41% of null animals born to homozygous parents die in the first day of life; from heterozygous crosses, nulls are born at Mendelian ratios
|
|
• at birth, weight of homozygotes is 5-15% lower than wild-type in heterozygous matings
|
|
• growth retardation is apparent at 3 weeks of age with homozygotes being 50-55% of normal weight in heterozygous matings
|
|
• E13-14 embryos display a moderate reduction in size of the pituitary gland; in newborns, the anterior and posterior lobes are reduced in size with the a deep open lumen being retained by the posterior lobe
|
|
• E13-14 embryos display a moderate reduction in size of the pituitary gland; in newborns, the anterior and posterior lobes are reduced in size with the a deep open lumen being retained by the posterior lobe
|
|
• brains of adult mutants are smaller than wild-type (0.41g versus 0.49g respectively)
|
|
• olfactory bulb is reduced in size in mutants
|
 |
• adult mutant females are rarely in oestrus
|
|
• average litter per breeding pair per month is 5 times smaller than wild-type
|
|
• mutants are hyposmic and less sensitive to repellent odors
|
|
• null mice have 25-40% of wild-type levels of IGF-1
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in mutants, significantly more neurons from null animals extend tau-positive neurites that are longer than 30 microns than do wild-type axons
|
|
• injured facial axons in mutants regenerate at a faster rate than in wild-type; functional recovery begins about 1 day earlier in mutants and full recovery occurs 1 day earlier than in wild-type animals
|
|
• in mutants, significantly more neurons from null animals extend tau-positive neurites that are longer than 30 microns than do wild-type axons
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• strong inhibition of neuron growth when challenged with high concentrations of chondroitin sulfate proteoglycans
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants are viable to late embryogenesis E18.5, born but never breathe
|
|
• E18.5 skeletal muscle fibers are smaller in diameter, with their nuclei centrally localized along the fiber
|
|
• alveoli of E18.5 are tightly compressed
|
|
• subcutaneous tissues are enlarged
|
|
• the compartmentalization of brown adipose tissue is less obvious
|
|
• in E18.5 skeletal muscle fibers
|
|
• at E16.5 the mean thickness of the diaphragm is thinner
|
|
• a reduction in the mass of dorsal axial skeletal muscles and limb muscles
|
|
• only a few morphologically abnormal motoneurons that exhibit a smaller cytoplasm with Nissl bodies and
an indistinct nucleolus, are found
|
|
• a decrease occurs late in embryogenesis between E13 and E18.5, during motoneuron axon extension
|
|
• at E13.5 although the phrenic nerve appears to reach the appropriate initial location on the diaphragm, the two main sternocostal branches that normally defasciculate from the main nerve are retracted
• at 15.5 and E18.5 complete absence of sternocostal branches
|
|
• subcutaneous tissues are enlarged
|
|
• hair follicles are not fully developed at E18.5
|
|
• from E15
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• capillaceous nerves are seldom observed to defasciculate from the major sternocostal branches
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• a modest reduction of the number of motoneurons
|
|
• capillaceous nerves are seldom observed to defasciculate from the major sternocostal branches
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Craniofacial anomalies in Ptprftm1Wjh/Ptprftm1Wjh Ptprstm1Mtr/Ptprstm1Mtr double-mutant embryos
|
• all mice are dead prior to 4 weeks of age
|
|
• 13% of E18.5 embryos have duplicated kidneys and ureters
|
|
• some embryos have abnormal winding of the ureters
|
|
• common nephric duct is still present in E13.5 embryos while being eliminated in control embryos
• the common nephric duct in E12.5 embryos has much lower rates of apoptosis especially in the cadual segment where 51% of the wil-type cells are apoptotic versus 6% in the mutant embryos
|
|
• many E18.5 embryos without severe kidney malformations have dilated ureters
|
|
• 13% of E18.5 embryos have duplicated kidneys and ureters
|
|
• 52% of E18.5 embryos have severe uni- or bilateral hydroureters
|
|
• in severe hydroureter/hydronephrosis cases, a ureterocele is seen within the bladder, ipsilateral to the enlarged ureter and kidneys
|
|
• at E14.5, Meckel's cartilage is dysmorphic with foreshortened and mis-patterned middle processes that are abnormally fused at the distal tip
• however, the proximal arms of Meckels cartilage articulate normally with the middle ear capsule at E14.5, and proximal Meckels cartilage is specified normally in the mandibular arch at E12.5
|
|
• defects in calvaria development at E18.5
|
|
• dysmorphic basiosphenoid at E18.5
|
|
• absent pterygoid processes at E18.5
|
|
• defects in mandibular development, with a severely dysmorphic dentary bone at E18.5
• mandibular bone deposition occurs medially, leading to premature fusion of the dentary bones at E14.5
• aberrant midline expression of both Col2a1 (chondrocyte marker) and of Runx2 (osteoblast marker) in the medial mandibular arch at E12.5
• significant decrease of cell proliferation in the proximal mandibular arch at E12.5, with relatively normal cell proliferation in the distal mandibular arch
• however, the rostral processes (angular, coronoid, condylar) are present at E18.5
|
|
• at E18.5, the distal mandibular symphysis is abnormally fused at the midline
|
|
• mandibles are narrower and shortened, with abnormal bone deposition between the dentary bones at E18.5
• lower jaw is already undersized (shortened, narrowed) at E14.5
|
|
• lower jaw is already shortened at E14.5
|
|
• shortened cartilage anlagen of the premaxilla at E14.5
|
|
• truncation of the premaxilla at E18.5
• however, the maxilla appears grossly normal
|
|
• 45% of E18.5 embyros have micrognathia
(J:149756)
• 39% of embryos exhibit micrognathia
(J:199299)
• all micrognathic embryos also exhibit macroglossia/glossoptosis and palatal defects, including cleft palate and palatal bone abnormalities at E16.5 and E18.5
(J:199299)
|
|
• missing palatine bones at E18.5
|
|
• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5
|
|
• shortened cartilage anlagen of the nasal capsule at E14.5
|
|
• absence of the nasal capsule at E18.5
|
|
• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5
|
|
• palatal shelves extend to the midline but do not touch and fuse
|
|
• ~70% reduction in first pharyngeal arch cell proliferation at E10.5
• however, neural crest migration and survival is normal in the first pharyngeal arch at E9.5
|
|
• cleft palate is noted in E18.5 embryos
(J:149756)
• ~50% of the embryos show cleft palate at E18.5
(J:199299)
• all micrognathic embryos also exhibit cleft palate
(J:199299)
• embryos without micrognathia have normal palates
(J:199299)
|
|
• at E18.5, the tongue is disorganized, less differentiated, and smaller
• ~50% reduction of cell proliferation in the developing tongue at E12.5
• embryos without micrognathia have normal tongues
|
|
• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity
• all micrognathic embryos also exhibit glossoptosis
|
|
• embryos lack a tongue at E14.5
|
|
• microglossia at E18.5
• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5
|
|
• blockage of the oral cavity at E18.5 with a marked reduction in airway space
|
|
• 23% of E18.5 embryos have exencephaly
|
|
• ~70% reduction in first pharyngeal arch cell proliferation at E10.5
• however, neural crest migration and survival is normal in the first pharyngeal arch at E9.5
|
|
• shortened cartilage anlagen of the nasal capsule at E14.5
|
|
• absence of the nasal capsule at E18.5
|
| N |
• no defects in appendicular and axial skeletal development at E18.5
• normal bone and cartilage development of the body and middle ear capsule at E14.5
|
|
• at E14.5, Meckel's cartilage is dysmorphic with foreshortened and mis-patterned middle processes that are abnormally fused at the distal tip
• however, the proximal arms of Meckels cartilage articulate normally with the middle ear capsule at E14.5, and proximal Meckels cartilage is specified normally in the mandibular arch at E12.5
|
|
• defects in calvaria development at E18.5
|
|
• dysmorphic basiosphenoid at E18.5
|
|
• absent pterygoid processes at E18.5
|
|
• defects in mandibular development, with a severely dysmorphic dentary bone at E18.5
• mandibular bone deposition occurs medially, leading to premature fusion of the dentary bones at E14.5
• aberrant midline expression of both Col2a1 (chondrocyte marker) and of Runx2 (osteoblast marker) in the medial mandibular arch at E12.5
• significant decrease of cell proliferation in the proximal mandibular arch at E12.5, with relatively normal cell proliferation in the distal mandibular arch
• however, the rostral processes (angular, coronoid, condylar) are present at E18.5
|
|
• at E18.5, the distal mandibular symphysis is abnormally fused at the midline
|
|
• mandibles are narrower and shortened, with abnormal bone deposition between the dentary bones at E18.5
• lower jaw is already undersized (shortened, narrowed) at E14.5
|
|
• lower jaw is already shortened at E14.5
|
|
• shortened cartilage anlagen of the premaxilla at E14.5
|
|
• truncation of the premaxilla at E18.5
• however, the maxilla appears grossly normal
|
|
• 45% of E18.5 embyros have micrognathia
(J:149756)
• 39% of embryos exhibit micrognathia
(J:199299)
• all micrognathic embryos also exhibit macroglossia/glossoptosis and palatal defects, including cleft palate and palatal bone abnormalities at E16.5 and E18.5
(J:199299)
|
|
• missing palatine bones at E18.5
|
|
• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5
|
|
• shortened cartilage anlagen of the nasal capsule at E14.5
|
|
• absence of the nasal capsule at E18.5
|
|
• hyaloids arteries are observed in E18.5 embryos
|
|
• 23% of E18.5 embryos have failure in eyelid closure
|
|
• neuroretinal structures are disorganized in E18.5 embryos
|
|
• the inner nuclear layer of E18.5 embryos is hyperplastic
|
|
• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5
|
|
• shortened cartilage anlagen of the nasal capsule at E14.5
|
|
• absence of the nasal capsule at E18.5
|
|
• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5
|
|
• palatal shelves extend to the midline but do not touch and fuse
|
|
• cleft palate is noted in E18.5 embryos
(J:149756)
• embryos without micrognathia have normal palates
(J:199299)
• ~50% of the embryos show cleft palate at E18.5
(J:199299)
• all micrognathic embryos also exhibit cleft palate
(J:199299)
|
|
• at E18.5, the tongue is disorganized, less differentiated, and smaller
• ~50% reduction of cell proliferation in the developing tongue at E12.5
• embryos without micrognathia have normal tongues
|
|
• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity
• all micrognathic embryos also exhibit glossoptosis
|
|
• embryos lack a tongue at E14.5
|
|
• microglossia at E18.5
• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5
|
|
• blockage of the oral cavity at E18.5 with a marked reduction in airway space
|
|
• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5
|
|
• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5
|
|
• palatal shelves extend to the midline but do not touch and fuse
|
|
• cleft palate is noted in E18.5 embryos
(J:149756)
• ~50% of the embryos show cleft palate at E18.5
(J:199299)
• all micrognathic embryos also exhibit cleft palate
(J:199299)
• embryos without micrognathia have normal palates
(J:199299)
|
|
• at E18.5, the tongue is disorganized, less differentiated, and smaller
• ~50% reduction of cell proliferation in the developing tongue at E12.5
• embryos without micrognathia have normal tongues
|
|
• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity
• all micrognathic embryos also exhibit glossoptosis
|
|
• embryos lack a tongue at E14.5
|
|
• microglossia at E18.5
• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5
|
|
• hyaloids arteries are observed in E18.5 embryos
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Weissenbacher-Zweymuller syndrome | DOID:4258 |
OMIM:261800 |
J:199299 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• considerably improved recovery of retinal ganglion cell axons from retro-orbital optic nerve crush
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/30/2024 MGI 6.23 |
|
|
|
||