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Phenotypes Associated with This Genotype
Genotype
MGI:5896655
Allelic
Composition
Brpf1tm1c(EUCOMM)Wtsi/Brpf1tm1c(EUCOMM)Wtsi
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * C57BL/6N
Cell Lines EPD0069_1_G06
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brpf1tm1c(EUCOMM)Wtsi mutation (0 available); any Brpf1 mutation (24 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most pups die prior to weaning at P21 (J:224155)
• most mice die before weaning (J:241490)
• however, a minority of mice survive beyond weaning (J:241490)
• slightly fewer than mice are born

nervous system
N
• mice exhibit normal cerebellum
• distribution of Gfap+ radial glial cells in the dentate gyrus is slightly disturbed at E16.5 but becomes moderately and completely disorganized at P0 and P10, respectively
• significantly fewer Gfap+ radial glial cells are found in the granular cell layer of the dentate gyrus at P10
• at P10, Tbr2+ intermediate neuronal progenitors fail to translocate to the subgranular zone and the hilum of the dentate gyrus, with some of Tbr2+ progenitors remaining at the outer rim of the molecular cell layer
• only a few NeuroD1+ neuroblasts are present in the granular cell of the dentate gyrus at P10, and almost none is found in the subgranular zone at P24, indicating abnormal migration of NeuroD1+ neuroblasts
• cell cycle progression of the dentate migration stream is impaired at E15.5, most likely through the G1 phase
• at P10 and P24, Ki67+ neuronal precursors are missing in the dentate gyrus, indicating a dramatic lack of proliferation in the subgranular zone (J:224155)
• at E15.5, the number of BrdU+ progenitors is normal in the dentate migration stream whereas the Ki67+ cycling cell population (at G1, S, G2 and M, but not G0) is significantly increased, thereby decreasing the ratio of S-phase (BrdU+) over proliferating (Ki67+) cells (J:224155)
• at E15.5
• thinner layers V to VI at P0
• immediately after birth
• absence of ventral and dorsal but not middle transverse sections at P14 and P24, but not E17.5 with only caudal reduction at P0
• at P19, the hippocampus exhibits abnormal axon and dendritic trees in the dentate gyrus as well as in the CA regions
• at P10, the hippocampus fissure is malformed
• mice exhibit partial agenesis of the hippocampus
• at P0, the suprapyramidal blade is underdeveloped, with one end remaining attached to the ventricular zone, whereas the infrapyramidal blade is missing in the developing dentate gyrus
• at P0, a much smaller population of Ctip2+ neurons is observed in the suprapyramidal blade
• at P19, fewer neurons are observed in the dentate gyrus
• mice exhibit dentate gyrus hypoplasia at E17.5 and P0
• at P8, mossy fibers of the suprapyramidal bundles and dentate hilum are missing
• at P10 and P24, the pyramidal layers of CA1 and CA3 are not as tightly packed as in control mice
• at P19, the hippocampus exhibits disorganized neurons with less robust dendritic trees
• at P24, FoxG1+ neurons are abnormally found in the CA3 field and are not as tightly packed in the CA1 field
• nuclear layers of CA1 and CA3 appear more diffusely packed than in control mice
• border between cornu ammonis 1 (CA1) and the subiculum is not clearly defined at P10 or P24
• subiculum is expanded at P10 and P24
• altered lamination observed as early as E14.5 (J:241490)
• shorter rostral-caudal length and thinner than in control mice
• at P0, the population of Sox2+ neural stem cells is decreased in the dentate gyrus; no enrichment of Sox2+ neural stem cells is noted in the subgranular zone at P10 and P14, unlike in control mice
• fewer Dcx+ immature neurons are found in the subgranular zone of the dentate gyrus at P10 and P24
• only a few NeuroD1+ neuroblasts are present in the granular cell of the dentate gyrus at P10, and almost none is found in the subgranular zone at P24

behavior/neurological
• one surviving mouse exhibited impaired marble burying behavior
• impaired nest building

growth/size/body
• at P10, but not P5, and persisting beyond weaning

cellular
• reduced histone H3K23 acetylation in cortex extracts
• cell cycle progression of the dentate migration stream is impaired at E15.5, most likely through the G1 phase; defects at E15.5 are smaller than those at or after P10
• M phase of the cell cycle appears unaffected
• distribution of Gfap+ radial glial cells in the dentate gyrus is slightly disturbed at E16.5 but becomes moderately and completely disorganized at P0 and P10, respectively
• significantly fewer Gfap+ radial glial cells are found in the granular cell layer of the dentate gyrus at P10
• at P10, Tbr2+ intermediate neuronal progenitors fail to translocate to the subgranular zone and the hilum of the dentate gyrus, with some of Tbr2+ progenitors remaining at the outer rim of the molecular cell layer
• only a few NeuroD1+ neuroblasts are present in the granular cell of the dentate gyrus at P10, and almost none is found in the subgranular zone at P24, indicating abnormal migration of NeuroD1+ neuroblasts
• cell cycle progression of the dentate migration stream is impaired at E15.5, most likely through the G1 phase
• at P10 and P24, Ki67+ neuronal precursors are missing in the dentate gyrus, indicating a dramatic lack of proliferation in the subgranular zone (J:224155)
• at E15.5, the number of BrdU+ progenitors is normal in the dentate migration stream whereas the Ki67+ cycling cell population (at G1, S, G2 and M, but not G0) is significantly increased, thereby decreasing the ratio of S-phase (BrdU+) over proliferating (Ki67+) cells (J:224155)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
syndromic intellectual disability DOID:0050888 J:240552


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
01/18/2022
MGI 6.17
The Jackson Laboratory