Phenotypes associated with this allele

• Allele Symbol: Ptbp1^tm1Nobu
• Allele Name: targeted mutation 1, Nobuaki Yoshida
• Allele ID: MGI:5585398
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptbp1^tm1Nobu/Ptbp1^tm1Nobu	involves: 129P2/OlaHsd	MGI:5585416
cn2	Ptbp1^tm1Nobu/Ptbp1^tm2Nobu Emx1^tm1(cre)Ito/Emx1^+	involves: 129P2/OlaHsd	MGI:5585413
cn3	Ptbp1^tm1Nobu/Ptbp1^tm2Nobu Tg(Nes-cre)1Sasa/0	involves: 129P2/OlaHsd	MGI:5585414
cn4	Ptbp1^tm1Nobu/Ptbp1^tm2Nobu Tg(Nes-cre/ERT2)#Kag/0	involves: 129P2/OlaHsd * C57BL/6	MGI:5585415

Genotype
MGI:5585416

hm1

• Allelic Composition: Ptbp1^tm1Nobu/Ptbp1^tm1Nobu
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:213626 )

• no mice are present after E6.5

Genotype
MGI:5585413

cn2

• Allelic Composition: Ptbp1^tm1Nobu/Ptbp1^tm2Nobu; Emx1^tm1(cre)Ito/Emx1⁺
• Genetic Background: involves: 129P2/OlaHsd

nervous system

abnormal brain ependyma motile cilium morphology ( J:213479 )

• lack of ependymal cilia in the whole dorsal telencephalon, including the anterior and posterior region

hydrocephaly ( J:213479 )

abnormal telencephalon morphology ( J:213479 )

• lack of ependymal cilia in the whole dorsal telencephalon, including the anterior and posterior region

dilated lateral ventricle ( J:213479 )

• at P10

cellular

abnormal brain ependyma motile cilium morphology ( J:213479 )

• lack of ependymal cilia in the whole dorsal telencephalon, including the anterior and posterior region

Genotype
MGI:5585414

cn3

• Allelic Composition: Ptbp1^tm1Nobu/Ptbp1^tm2Nobu; Tg(Nes-cre)1Sasa/0
• Genetic Background: involves: 129P2/OlaHsd

mortality/aging

premature death ( J:213479 )

• all mice die by 10 weeks

nervous system

nervous system phenotype ( J:213479 )

N • mice exhibit normal neurogenesis before E14.5

N • the overall laminar structure of the cortex is normal

N • mice exhibit normal choroid plexus and subcommissural organ

abnormal brain ependyma morphology ( J:213479 )

• lack of ependymal cells on the dorsal wall at P10

• lack of ependymal cell layer is linked to loss of adherens junctions via decrease of neuronal stem cells in the ventricular zone without apoptosis

abnormal lateral ventricle morphology ( J:213479 )

• variable severity without stenosis

dilated lateral ventricle ( J:213479 )

• variable severity without stenosis

increased astrocyte number ( J:213479 )

• at P21

abnormal nervous system development ( J:213479 )

• accelerated gliogenesis in the dorsal telencephalon before P2 with reduced GFAP+ cells until P5

premature neuronal precursor differentiation ( J:213479 )

• at E15.5 and E16.5 as determined by marker expression

non-obstructive hydrocephaly ( J:213479 )

• fully penetrant at P21

abnormal neuronal stem cell morphology ( J:213479 )

• reduced numbers at E18.5 due to precocious differentiation

ectopic neuron ( J:213479 )

• ectopically located basal progenitor cells along the radial axis and at the apical side of the ventricular zone

• periventricular heterotropias at P0 and P10 located at the dorsal wall of lateral ventricles or striato-cortical junction

craniofacial

domed cranium ( J:213479 )

cellular

premature neuronal precursor differentiation ( J:213479 )

• at E15.5 and E16.5 as determined by marker expression

skeleton

domed cranium ( J:213479 )

Genotype
MGI:5585415

cn4

• Allelic Composition: Ptbp1^tm1Nobu/Ptbp1^tm2Nobu; Tg(Nes-cre/ERT2)#Kag/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

nervous system

nervous system phenotype ( J:213479 )

N • mice treated with tamoxifen at E16.5 exhibit mature ependymal cells on the ventricular wall of the dorsal cortex at P10