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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Puratm1Kkh
targeted mutation 1, Kamel Khalili
MGI:2677937
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Puratm1Kkh/Puratm1Kkh involves: 129 MGI:2677967
ht2
Puratm1Kkh/Pura+ involves: 129 MGI:4430298


Genotype
MGI:2677967
hm1
Allelic
Composition
Puratm1Kkh/Puratm1Kkh
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Puratm1Kkh mutation (0 available); any Pura mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die between 18 and 28 days of age exhibiting severe neurological defects

growth/size/body
• do not gain weight starting at 2 weeks after birth

behavior/neurological
• while mice show no overt abnormalities prior to 2 weeks of age, they later exhibit severe tremors
• slack posture
• flaccid tail
• waddling gait first observed at P14
• infrequent mobility
• while mice show no overt abnormalities prior to 2 weeks of age, they later exhibit spontaneous seizures

nervous system
• while mice show no overt abnormalities prior to 2 weeks of age, they later exhibit spontaneous seizures
• lack of proliferation of precursor cells in the hippocampus and cerebellum
• reduced white matter tracts in the subcortical white matter and in the cortex
• reduced number of neuronal cells in regions of the hippocampus
• aberrant lamination of the hippocampus
• reduced synapse formation in the hippocampus
• aberrant lamination of the cerebellum
• 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
• reduced numbers of neurons in the cortex
• reduced numbers of neurons in the Purkinje cell layer
• smaller in size
• reduced numbers of neurons in the cerebellar granule layer
• molecular layer is not organized into a typically more compacted layer and appears broader
• synapse formation in the hippocampus is reduced by about 69%
• reduced white matter tracts in the subcortical white matter and in the cortex
• reduction in the number of neurons in the cerebellum, cortex, and hippocampus and in the percentage of cells which express neurofilaments

cellular
• lack of proliferation of precursor cells in the hippocampus and cerebellum
• 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
• decrease in cells undergoing DNA replication in multiple organs, including the brain, thymus, spleen, colon and lungs

hematopoietic system
• decrease in cellular proliferation in the thymus, particularly in the thymic cortex
• decrease in cellular proliferation in the white and red pulp of the spleen

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

immune system
• decrease in cellular proliferation in the thymus, particularly in the thymic cortex
• decrease in cellular proliferation in the white and red pulp of the spleen

respiratory system
• bronchiolar epithelium shows reduced cellular proliferation

endocrine/exocrine glands
• decrease in cellular proliferation in the thymus, particularly in the thymic cortex




Genotype
MGI:4430298
ht2
Allelic
Composition
Puratm1Kkh/Pura+
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Puratm1Kkh mutation (0 available); any Pura mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• occasional spontaneous seizures, usually following routine handling during cage changes

cellular
• cell proliferation in several tissues (cerebellum, hippocampus, thymus, spleen, lungs) is lower than in wild-type, but higher than in homozygotes
• decrease in cells undergoing DNA replication in multiple organs, including the brain, thymus, spleen and lungs

growth/size/body
• delay in development

nervous system
• occasional spontaneous seizures, usually following routine handling during cage changes

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





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory