Phenotypes Associated with This Genotype

Genotype
MGI:2677967

• Allelic Composition: Pura^tm1Kkh/Pura^tm1Kkh
• Genetic Background: involves: 129

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:85759 )

• mice die between 18 and 28 days of age exhibiting severe neurological defects

growth/size/body

slow postnatal weight gain ( J:85759 )

• do not gain weight starting at 2 weeks after birth

behavior/neurological

tremors ( J:85759 )

• while mice show no overt abnormalities prior to 2 weeks of age, they later exhibit severe tremors

abnormal posture ( J:85759 )

• slack posture

abnormal tail movements ( J:85759 )

• flaccid tail

abnormal gait ( J:85759 )

• waddling gait first observed at P14

decreased locomotor activity ( J:85759 )

• infrequent mobility

seizures ( J:85759 )

• while mice show no overt abnormalities prior to 2 weeks of age, they later exhibit spontaneous seizures

nervous system

seizures ( J:85759 )

• while mice show no overt abnormalities prior to 2 weeks of age, they later exhibit spontaneous seizures

decreased neuronal precursor proliferation ( J:85759 )

• lack of proliferation of precursor cells in the hippocampus and cerebellum

abnormal brain white matter morphology ( J:85759 )

• reduced white matter tracts in the subcortical white matter and in the cortex

abnormal hippocampus morphology ( J:85759 )

• reduced number of neuronal cells in regions of the hippocampus

• aberrant lamination of the hippocampus

• reduced synapse formation in the hippocampus

abnormal cerebellum morphology ( J:85759 )

• aberrant lamination of the cerebellum

abnormal cerebellum development ( J:85759 )

• the external granule layer and internal granular layer are still present at P10, a time in which this layer has disappeared in wild-type mice

abnormal cerebellum external granule cell layer morphology ( J:85759 )

• disorganized

abnormal cerebellar cortex morphology ( J:85759 )

• reduced numbers of neurons in the cortex

decreased Purkinje cell number ( J:85759 )

• reduced numbers of neurons in the Purkinje cell layer

decreased Purkinje cell size ( J:85759 )

• smaller in size

abnormal cerebellar granule layer morphology ( J:85759 )

• reduced numbers of neurons in the cerebellar granule layer

abnormal cerebellar molecular layer ( J:85759 )

• molecular layer is not organized into a typically more compacted layer and appears broader

cerebellum hypoplasia ( J:85759 )

decreased CNS synapse formation ( J:85759 )

• synapse formation in the hippocampus is reduced by about 69%

abnormal nervous system tract morphology ( J:85759 )

• reduced white matter tracts in the subcortical white matter and in the cortex

decreased neuron number ( J:85759 )

• reduction in the number of neurons in the cerebellum, cortex, and hippocampus and in the percentage of cells which express neurofilaments

cellular

decreased neuronal precursor proliferation ( J:85759 )

• lack of proliferation of precursor cells in the hippocampus and cerebellum

decreased cell proliferation ( J:85759 )

• decrease in cell proliferation in the cerebellum and hippocampus during development, in the thymus, in the white and red pulp of the spleen, and bronchiolar epithelium of the lungs

decreased DNA replication ( J:85759 )

• decrease in cells undergoing DNA replication in multiple organs, including the brain, thymus, spleen, colon and lungs

hematopoietic system

abnormal thymus morphology ( J:85759 )

• decrease in cellular proliferation in the thymus, particularly in the thymic cortex

reticulocytopenia ( J:85759 )

abnormal spleen morphology ( J:85759 )

• decrease in cellular proliferation in the white and red pulp of the spleen

small spleen ( J:85759 )

decreased spleen weight ( J:85759 )

homeostasis/metabolism

decreased DNA replication ( J:85759 )

• decrease in cells undergoing DNA replication in multiple organs, including the brain, thymus, spleen, colon and lungs

immune system

abnormal thymus morphology ( J:85759 )

• decrease in cellular proliferation in the thymus, particularly in the thymic cortex

abnormal spleen morphology ( J:85759 )

• decrease in cellular proliferation in the white and red pulp of the spleen

small spleen ( J:85759 )

decreased spleen weight ( J:85759 )

respiratory system

abnormal bronchiole epithelium morphology ( J:85759 )

• bronchiolar epithelium shows reduced cellular proliferation

endocrine/exocrine glands

abnormal thymus morphology ( J:85759 )

• decrease in cellular proliferation in the thymus, particularly in the thymic cortex