Phenotypes associated with this allele

• Allele Symbol: Prpf40b^em1(IMPC)Ics
• Allele Name: endonuclease-mediated mutation 1, Mouse Clinical Institute
• Allele ID: MGI:6388375
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prpf40b^em1(IMPC)Ics/Prpf40b^em1(IMPC)Ics	involves: C57BL/6N	MGI:8283437

Genotype
MGI:8283437

hm1

• Allelic Composition: Prpf40b^em1(IMPC)Ics/Prpf40b^em1(IMPC)Ics
• Genetic Background: involves: C57BL/6N

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

nervous system

abnormal neuron differentiation ( J:378358 )

• at E10.5, embryos show reduced proliferation of neuronal progenitor cells along with early disruptions in NTRK2 (TRKB) isoform balance, indicating defects in early neurogenesis

• however, embryos remain viable beyond early neurogenesis, exhibiting normalized protein levels of both the full-length receptor (TRKB-FL) and the truncated isoform (TRKB-T1, a dominant-negative form of TRKB-FL that inhibits BDNF signaling) along with a shift towards increased mRNA expression of TRKB-T1 by E14.5

decreased neuronal precursor proliferation ( J:378358 )

• at E10.5 (early stage of neurogenesis), embryos exhibit decreased proliferation of neuronal progenitor cells, as indicated by decreased Ki-67 expression

• defect in neuronal progenitor proliferation persists at E14.5 (mid stage of neurogenesis)

homeostasis/metabolism

abnormal protein level ( J:378358 )

• at E10.5, embryos show decreased protein levels of both the full-length receptor (TRKB-FL) and the truncated isoform (TRKB-T1) generated by alternative splicing of the Ntrk2 (neurotrophic tyrosine kinase, receptor, type 2) gene, unlike in wild-type embryos where protein levels of both isoforms are increased; both genotypes show no signs of synapse formation at E10.5, as indicated by absence of synaptophysin (SYP) expression (a marker of synaptic plasticity)

• although protein levels of TRKB-FL, TRKB-T1, and SYP are comparable to those in wild-type embryos by E14.5, mRNA levels of TRKB-T1 are elevated while mRNA levels or TRKB-FL are significantly reduced relative to wild-type controls

cellular

abnormal neuron differentiation ( J:378358 )

• at E10.5, embryos show reduced proliferation of neuronal progenitor cells along with early disruptions in NTRK2 (TRKB) isoform balance, indicating defects in early neurogenesis

• however, embryos remain viable beyond early neurogenesis, exhibiting normalized protein levels of both the full-length receptor (TRKB-FL) and the truncated isoform (TRKB-T1, a dominant-negative form of TRKB-FL that inhibits BDNF signaling) along with a shift towards increased mRNA expression of TRKB-T1 by E14.5

decreased neuronal precursor proliferation ( J:378358 )

• at E10.5 (early stage of neurogenesis), embryos exhibit decreased proliferation of neuronal progenitor cells, as indicated by decreased Ki-67 expression

• defect in neuronal progenitor proliferation persists at E14.5 (mid stage of neurogenesis)

growth/size/body

growth/size/body region phenotype ( J:378358 )

N • mice show no significant changes in growth, size, or body weight relative to wild-type controls