Phenotypes associated with this allele

• Allele Symbol: Pura^tm1Herm
• Allele Name: targeted mutation 1, Jochen Herms
• Allele ID: MGI:5305287
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pura^tm1Herm/Pura^tm1Herm	involves: 129P2/OlaHsd * BALB/c	MGI:5305318
ht2	Pura^tm1Herm/Pura^+	involves: 129P2/OlaHsd * BALB/c	MGI:5305319

Genotype
MGI:5305318

hm1

• Allelic Composition: Pura^tm1Herm/Pura^tm1Herm
• Genetic Background: involves: 129P2/OlaHsd * BALB/c

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

mortality/aging

premature death ( J:179606 )

• mice do not survive beyond 5 to 6 months

postnatal lethality, incomplete penetrance ( J:179606 )

• many mice have to be injected with glucose one or more during postnatal days 12-10 in order to survive

nervous system

abnormal neuron proliferation ( J:179606 )

• increased in the hippocampus and cerebellum

increased brain size ( J:179606 )

• at 2 months

increased brain weight ( J:179606 )

• at 2 months

abnormal dentate gyrus morphology ( J:179606 )

• increased thickness of the stratum moleculare of the dentate gyrus

abnormal hippocampus stratum lacunosum morphology ( J:179606 )

• increased thickness

decreased Purkinje cell number ( J:179606 )

• at day 150

decreased cerebellar granule cell number ( J:179606 )

• in the dentate gyrus at P5

• in the inner granule layer of the cerebellum at P15 and P20

• however, granule cell numbers are normal by P10 in the dentate gyrus and in adult mice in the inner granule layer of the cerebellum

abnormal axon morphology ( J:179606 )

behavior/neurological

tremors ( J:179606 )

• severe and continuous tremor at P12-P15

• by 5-6 months, mice exhibit persistent shaking

weakness ( J:179606 )

• weak hind limbs

abnormal gait ( J:179606 )

• clumsy and uncoordinated

growth/size/body

weight loss ( J:179606 )

• with the onset of tremor

• however, mice regain weight after P20

cellular

abnormal neuron proliferation ( J:179606 )

• increased in the hippocampus and cerebellum

Genotype
MGI:5305319

ht2

• Allelic Composition: Pura^tm1Herm/Pura⁺
• Genetic Background: involves: 129P2/OlaHsd * BALB/c

nervous system

abnormal neuron proliferation ( J:179606 )

• intermediately increased in the hippocampus and cerebellum

increased brain weight ( J:179606 )

• intermediate at 2 months

cellular

abnormal neuron proliferation ( J:179606 )

• intermediately increased in the hippocampus and cerebellum