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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptpn9tm1Dny
targeted mutation 1, Gregory P Downey
MGI:3700988
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptpn9tm1Dny/Ptpn9tm1Dny B6.129-Ptpn9tm1Dny MGI:3702001


Genotype
MGI:3702001
hm1
Allelic
Composition
Ptpn9tm1Dny/Ptpn9tm1Dny
Genetic
Background
B6.129-Ptpn9tm1Dny
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn9tm1Dny mutation (0 available); any Ptpn9 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous embryos decrease in number between E15 and birth with <10% surviving birth and immediate postnatal period
• few mutants survive to weaning, likely due to feeding impairment due to craniofacial abnormalities as well as neurological problems

embryo
• by E10, embryos show growth retardation
• by E10, some embryos show neural tube defects, including craniofacial defects, myelomeningoceles and encephaloceles; some of these defects are observed in live-born mutants
• by E10, some embryos display myelomeningoceles
• areas of colliquative necrosis are seen at birth containing foamy and debris-laden macrophages

growth/size/body
• majority of mutants have abnormal dentition
• by E10, embryos show growth retardation
• all late embryonic and live-born pups are severely runted

nervous system
• within necrotic brain areas, petechial hemorrhage containing macrophages and ingested erythrocytes is observed
• by E10, some embryos show neural tube defects, including craniofacial defects, myelomeningoceles and encephaloceles; some of these defects are observed in live-born mutants
• by E10, some embryos display myelomeningoceles
• brains are smaller than wild-type or heterozygous littermates
• adjacent to necrotic areas of cerebral cortex, lateral ventricles are enlarged
• cerebral cortex and subcortical white matter display necrosis; white matter demonstrates rarefaction and microcystic changes
• seen in some embryos by E10
• by E10, some embryos display encephaloceles

behavior/neurological
• seen in some mutants that survive through weaning
• some surviving mutants display paraparesis past weaning age

craniofacial
• embryos and pups have absent calcification of the cranium
• majority of mutants have abnormal dentition
• majority of late embryonic and live born mutants show doming of cranium

skeleton
• embryos and pups have absent calcification of the cranium
• majority of mutants have abnormal dentition
• majority of late embryonic and live born mutants show doming of cranium
• by E10, some embryos display myelomeningoceles
• deficient calcification of the diaphseal portion of the long bones is observed in embryos an neonates

cardiovascular system
• most embryos display large areas of hemorrhage in craniofacial, cervical and dorsal aspects of trunk
• within necrotic brain areas, petechial hemorrhage containing macrophages and ingested erythrocytes is observed

hematopoietic system
• mutant T lymphocytes from thymus and peripheral lymph nodes of recipients of mutant liver cells show defective response to receptor-dependent and -independent stimulation
• addition of exogenous Il-2 restores proliferative capacity
• T lymphocytes developing from mutant liver cells in recipient mice show reduced numbers of secretory vesicles compared to wild-type lymphocytes
• transplanted liver hematopoietic progenitor cells show defects
• thrombin induced platelet aggregation is diminished compared to wild-type

immune system
• mutant T lymphocytes from thymus and peripheral lymph nodes of recipients of mutant liver cells show defective response to receptor-dependent and -independent stimulation
• addition of exogenous Il-2 restores proliferative capacity
• T lymphocytes developing from mutant liver cells in recipient mice show reduced numbers of secretory vesicles compared to wild-type lymphocytes

homeostasis/metabolism
• transplanted liver hematopoietic progenitor cells show defects
• thrombin induced platelet aggregation is diminished compared to wild-type

cellular
• mutant T lymphocytes from thymus and peripheral lymph nodes of recipients of mutant liver cells show defective response to receptor-dependent and -independent stimulation
• addition of exogenous Il-2 restores proliferative capacity





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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory