Phenotypes associated with this allele

• Allele Symbol: Phgdh^tm1.1Shfu
• Allele Name: targeted mutation 1.1, Shigeki Furuya
• Allele ID: MGI:3769591
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Phgdh^tm1.1Shfu/Phgdh^tm1.1Shfu	involves: 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:3769662
cx2	Apc^Min/Apc^+ Phgdh^tm1.1Shfu/Phgdh^+	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:5426846

Genotype
MGI:3769662

hm1

• Allelic Composition: Phgdh^tm1.1Shfu/Phgdh^tm1.1Shfu
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

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

Small size and brain abnormalities in Phgdh^tm1.1Shfu/Phgdh^tm1.1Shfu embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:128777 )

• mice die after E13.5

nervous system

decreased brain size ( J:128777 )

forebrain hypoplasia ( J:128777 )

• some mice exhibit hypoplasia of the telencephalon, diencephalons and mesencephalon

enlarged lateral ventricles ( J:128777 )

• some mice exhibit swollen lateral ventricles

absent olfactory bulb ( J:128777 )

absent cerebellum ( J:128777 )

abnormal nervous system development ( J:128777 )

abnormal neuron differentiation ( J:128777 )

• the number of post-mitotic neurons immunoreactive for class III beta-tubulin are reduced

• the number of neuroepithelial stem cell/radial glial and neuronal populations locate in the ventricular zone and primordial plexiform layer are reduced

abnormal brain development ( J:128777 )

abnormal embryonic neuroepithelial layer differentiation ( J:128777 )

• the number of neuroepithelial stem cell/radial glial and neuronal populations locate in the ventricular zone and primordial plexiform layer are reduced

abnormal embryonic/fetal subventricular zone morphology ( J:128777 )

• mice lack ganglionic eminences

• the size and thickness of the ventricular zone is reduced compared to in wild-type mice

• the number of neuroepithelial stem cell/ radial glial and neuronal populations locate in the ventricular zone and primordial plexiform layer are reduced

• the number of proliferating cells in the ventricular zone is reduced

exencephaly ( J:128777 )

• some mice exhibit mild exencephaly with a dorsal closure failure

embryo

decreased embryo size ( J:128777 )

• at E9.5

abnormal embryonic neuroepithelial layer differentiation ( J:128777 )

• the number of neuroepithelial stem cell/radial glial and neuronal populations locate in the ventricular zone and primordial plexiform layer are reduced

limbs/digits/tail

interdigital webbing ( J:128777 )

• at E13.5, digits are not separated and apoptosis of the webbing is delayed or does not occur

growth/size/body

decreased embryo size ( J:128777 )

• at E9.5

cellular

abnormal neuron differentiation ( J:128777 )

• the number of post-mitotic neurons immunoreactive for class III beta-tubulin are reduced

• the number of neuroepithelial stem cell/radial glial and neuronal populations locate in the ventricular zone and primordial plexiform layer are reduced

Genotype
MGI:5426846

cx2

• Allelic Composition: Apc^Min/Apc⁺; Phgdh^tm1.1Shfu/Phgdh⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

neoplasm

neoplasm ( J:183477 )

N • mice exhibit the same tumorigenesis as Apc^Min heterozygotes