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Phenotypes Associated with This Genotype
Genotype
MGI:6474216
Allelic
Composition
Pqbp1tm1.1Hiok/Y
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pqbp1tm1.1Hiok mutation (0 available); any Pqbp1 mutation (4 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• males exhibit obvious microcephaly at 2 months of age
• intraperitoneal injection of a PQBP1-AAV vector in pregnant mothers at E10 rescues the microcephaly phenotype at 10 weeks of age

nervous system
N
• macroscopically, adult brains show normal cortical, subcortical and brain stem structures
• at the histological level, cortical layer structures are well preserved in both adult and embryonic brains
• at P90, two-photon microscopy revealed no significant changes in single-cell volume and total dendrite length of a neuron (retrosplenial dysgranular cortex, layer V) relative to control mice
• no increased neurogenesis from the neural stem progenitor cell (NSPC) pool is observed at E15 by co-staining with BrdU and Ki67
• levels of cell death in the cerebral cortex are normal at E10, E15, E18, P0 and P60 as assessed by TUNEL staining
• at 2 months of age, males show a significant reduction in brain size relative to control mice
• at 2 months of age, males show a significant reduction in brain weight relative to control mice
• intraperitoneal injection of a PQBP1-AAV vector in pregnant mothers at E10 results in a significant increase in brain weight at 10 weeks of age with preserved cortical structures
• at 2 months of age, males show a significant reduction in CA1 pyramidal layer thickness relative to control mice
• at 2 months of age, males show a significant reduction in both the molecular and granular cell layer thickness of the dentate gyrus relative to control mice
• at 2 months of age, males show a significant reduction in CA1 pyramidal layer thickness relative to control mice
• cortical layer thickness is decreased in both adult and embryonic brains
• notably, thickness of the telencephalon is already decreased at E10
• size of the stem cell pool is already small at E10, when neurogenesis has not yet started
• after E11, when neuroepithelial cells start switching from symmetric proliferative to asymmetric neurogenic division, delayed cell cycle time keeps both apical progenitor (AP) and basal progenitor (BP) stem cell pools equally reduced at E15
• reduction of stem cell pool leads to a decrease in the number of differentiated neurons

cellular
• at E14, total cell cycle time (Tc) of neural stem progenitor cells (NSPCs) is increased (+2.2 h, +12%), primarily due to a longer M phase
• at E14, a significant extension of the G2/M phase (+67%) and a slight extension of G1 (+6%) are observed in NSPCs; however, the S phase (Ts) of NSPCs is normal
• expression profiles of NSPCs revealed significant changes in gene groups that control the M phase, including anaphase-promoting complex genes, via aberrant transcription and RNA splicing
• exogenous Anapc4 (aka Apc4), a hub protein in the network of affected genes, results in recovery of the cell cycle, proliferation, and cell phenotypes of NSPCs
• at E14, the M phase of NSPCs is markedly increased (+1.4 h, +67%) while the length of the G2 phase is unchanged
• no abnormal centrosomes or mitotic spindles are detected, and the percentage of asymmetric cell division is normal

behavior/neurological
• at 3 months of age, males exhibit a significant reduction of total freezing time (%) in a fear conditioning test relative to control mice
• intraperitoneal injection of a PQBP1-AAV vector in pregnant mothers at E10 results in partial but significant recovery of the freezing response at 10 weeks of age
• at 3 months of age, males exhibit significantly less time spent on the rotarod than control mice on Day 1, 2 and 3
• intraperitoneal injection of a PQBP1-AAV vector in pregnant mothers at E10 results in a significant increase of time spent on the rotarod on Day 3 at 10 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Renpenning syndrome DOID:0060179 OMIM:309500
J:279053


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory