Phenotypes associated with this allele

• Allele Symbol: Fzd9^tm1Sjp
• Allele Name: targeted mutation 1, Samuel J Pleasure
• Allele ID: MGI:3586504
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fzd9^tm1Sjp/Fzd9^tm1Sjp	involves: C57BL/6J	MGI:3586704
ht2	Fzd9^tm1Sjp/Fzd9^+	involves: C57BL/6J	MGI:3586705

Genotype
MGI:3586704

hm1

• Allelic Composition: Fzd9^tm1Sjp/Fzd9^tm1Sjp
• Genetic Background: involves: C57BL/6J

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

nervous system

increased susceptibility to pharmacologically induced seizures ( J:99893 )

• at 10 months of age, latency of seizure onset is about half that of wild-type or heterozygous mice; however spontaneous seizures are not seen

abnormal forebrain development ( J:99893 )

• at E14.5 there is a slight but significant increase in M-phase precursor cells in the medial cortical wall and at E18.5 there is a significant increase in M-phase precursor cells in the dentate gyrus; however by P8 no difference is seen

• at E14.5 a more than 5-fold increased in the number of apoptotic cell clusters and the number of cells per cluster is detected in the dentate anlage and later in gestation, about a 3-fold increase in the number of apoptotic cells in the dentate and fimbria is detected by TUNEL staining

abnormal dentate gyrus morphology ( J:99893 )

• a 20% decrease in the number of dentate granule cells is seen at 12 weeks of age; however no change in the number of pyramidal cells is detected

• a dramatic increase in the mossy cell number and a substantial increase in neuronal density are seen in the hilus

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:99893 )

• at 10 months of age, latency of seizure onset is about half that of wild-type or heterozygous mice; however spontaneous seizures are not seen

abnormal spatial learning ( J:99893 )

• visually mediated, spatial memory is impaired

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:99893

Genotype
MGI:3586705

ht2

• Allelic Composition: Fzd9^tm1Sjp/Fzd9⁺
• Genetic Background: involves: C57BL/6J

nervous system

abnormal forebrain development ( J:99893 )

• at E14.5, there is a slight increase, less than that in homozygotes, in M-phase precursor cells in the medial cortical wall compared to wild-type mice

• at E14.5, the number of apoptotic cells in the dentate analage is less than in homozygotes but still increased compared to wild-type mice

abnormal dentate gyrus morphology ( J:99893 )

• a decrease in the number of dentate granule cells and an increase in the hilar mossy cell number, intermediate to that detected in homozygous mutants, are seen