Phenotypes associated with this allele

• Allele Symbol: Zfp597^tm1Hnawa
• Allele Name: targeted mutation 1, Hiroyuki Nawa
• Allele ID: MGI:6356881
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zfp597^tm1Hnawa/Zfp597^tm1Hnawa	B6.Cg-Zfp597^tm1Hnawa	MGI:6357693
ht2	Zfp597^tm1Hnawa/Zfp597^+	B6.Cg-Zfp597^tm1Hnawa	MGI:6357694

Genotype
MGI:6357693

hm1

• Allelic Composition: Zfp597^tm1Hnawa/Zfp597^tm1Hnawa
• Genetic Background: B6.Cg-Zfp597^tm1Hnawa

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

mortality/aging

embryonic lethality, complete penetrance ( J:278329 )

• mating heterozygous mutant mice failed to produce any viable homozygous offspring; traces of abnormal embryos are absorbed to the uterus wall at E10

embryo

embryonic growth arrest ( J:278329 )

• embryonic development ceases before cardiogenesis at E7.5 (egg cylinder stage)

Genotype
MGI:6357694

ht2

• Allelic Composition: Zfp597^tm1Hnawa/Zfp597⁺
• Genetic Background: B6.Cg-Zfp597^tm1Hnawa

behavior/neurological

ataxia ( J:278329 )

• preliminary observations suggest ataxic behaviors after 6 months of age

seizures ( J:278329 )

• preliminary observations suggest epileptic behaviors after 6 months of age

nervous system

seizures ( J:278329 )

• preliminary observations suggest epileptic behaviors after 6 months of age

abnormal dorsal striatum morphology ( J:278329 )

• spongiform changes in the dorsal striatum at P90

abnormal cingulate cortex morphology ( J:278329 )

• spongiform changes in the deep layers of cingulate cortex at P90

brain vacuoles ( J:278329 )

• H&E staining revealed pigmented nuclei and vacuoles in the cingulate cortex and dorsal striatum

• only a few vacuoles in the upper cortical layers and ventral striatum

• vacuoles often associated with immunoreactivity for 2',3'-cyclic nucleotide 3'-phosphodiesterase, a cell marker for oligodendrocytes, in dorsal striatum

abnormal oligodendrocyte morphology ( J:278329 )

• neurodegeneration and spongiform pathology often associated with oligodendrocytes

neurodegeneration ( J:278329 )

• degenerative neurons with condensed nucleus and scan cytoplasm in the deep layers of cingulate cortex and dorsal striatum at P90

• no obvious signs of neurodegeneration in the cerebellum

spongiform encephalopathy ( J:278329 )

• spongiform changes in the deep layers of cingulate cortex and dorsal striatum at P90