|
Allele Symbol Allele Name Allele ID |
Pals1tm1Caw targeted mutation 1, Christopher A Walsh MGI:4459078 |
||||||||||||||||||||||||||||
| Summary |
6 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the medial cortex is partially restored compared to in Mpp5tm1Caw/Mpp5tm1Caw Emx1tm1(cre)Krj/Emx1+ mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal survival
|
| N |
• mice exhibit normal reproduction
|
|
• apoptosis in the cortex is increased beginning at E10.5 and peaks at E11 to E12 compared to in wild-type mice
|
|
• at E11 and E12, the number of postmitotic neurons is increased compared to in wild-type mice
• at E12, neuronal progenitor cells withdraw from the cell cycle 2.3-fold quicker than wild-type cells
|
|
• at E12 and E14, BrdU incorporation in neuronal progenitor cells is 2-fold less than in wild-type mice
• at E12.5 and E14.5, M-phase cell phospho-histone H3 labeling of neuronal progenitor cells is decreased compared to in wild-type mice
|
|
• mice exhibit fluid-filled cystic space contiguous with the lateral ventricle not observed in wild-type mice
|
|
• the cerebral cortex is virtually absent compared to in wild-type mice
• at E12 and E14, cortical size and morphology is abnormal compared to in wild-type mice
|
|
• in the lateral cortex
|
| N |
• mice exhibit normal reflexes and motor coordination
|
|
• initiation of exploration in an open field is decreased compared to wild-type mice
|
|
• mice fail to locate a visible platform in a Morris water maze unlike wild-type mice
|
|
• mice fail the visual forepaw reach test unlike wild-type mice
|
|
• mice perform poorly in a wire hang test compared with wild-type mice
|
|
• mice exhibit irregular and jumpy movements that disrupt their stride and gait unlike wild-type mice
|
|
• in an open field
|
|
• apoptosis in the cortex is increased beginning at E10.5 and peaks at E11 to E12 compared to in wild-type mice
|
|
• at E11 and E12, the number of postmitotic neurons is increased compared to in wild-type mice
• at E12, neuronal progenitor cells withdraw from the cell cycle 2.3-fold quicker than wild-type cells
|
|
• at E12 and E14, BrdU incorporation in neuronal progenitor cells is 2-fold less than in wild-type mice
• at E12.5 and E14.5, M-phase cell phospho-histone H3 labeling of neuronal progenitor cells is decreased compared to in wild-type mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice exhibit an intermediate phenotype compared with homozygous mice
|
|
• mice exhibit an intermediate phenotype compared with homozygous mice
|
|
• mice exhibit a small medial cerebral cortex compared with wild-type mice
• however, the lateral cortex is relatively spared
|
|
• mice exhibit an intermediate behavioral phenotype compared with homozygous mice
|
|
• mice exhibit an intermediate phenotype compared with homozygous mice
|
|
• mice exhibit an intermediate phenotype compared with homozygous mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice exhibit lamination defects and pseudorossette formation unlike in control mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• moderately increased apoptosis in the retina at E15.5, E17.5 (8-fold), P0 (3.5-fold) and P35
|
|
• moderate-to-severe
|
|
• at E17.5, retinal folds are more frequent and prominent compared to in control mice
• at E17.5, retinal exhibit variable thickness unlike in control mice
• at P0, retina exhibit more regular pseudorossettes with mature shape unlike in control mice
• at P14, retinal lamina is locally thinner and severely disorganized compared to in control mice
|
|
• during early postnatal stages and progressively worsening at later stages
|
|
• at P0
|
|
• at P0
|
|
• thin and disorganized at P0
|
|
• at P0
|
|
• less regular appearance compared to in control mice
• locally extruded towards the retinal pigment epithelium side
|
|
• at P60
|
|
• at P60
|
|
• completely absent in severely affected adult mice
|
|
• at P35 and P60, the photoreceptor layer is either partially or completely devoid unlike in control mice
|
|
• some photoreceptors lack both inner and outer segments
|
|
• in some mice at P14 and P60
|
|
• in some mice at P14 and P60
|
|
• cells are reduced in size and are rounded unlike in control cells
|
|
• in some mice at P14 and P60
|
|
• in some mice at P14 and P60
|
|
• pseudorossettes of abnormal rod aggregations contain short and distorted outer and inner segments
|
|
• during early postnatal stages and progressively worsening at later stages
|
|
• discontinuous and disrupted
|
|
• during early postnatal stages and progressively worsening at later stages, mice exhibit degeneration of retinal cells in the photoreceptor, inner nuclear and ganglion cell layers unlike in control mice
|
|
• at E17.5, retinal folds are more frequent and prominent compared to in control mice
|
|
• at P35, mice exhibit severely reduced electroretinograms compared with control mice
|
|
• at P60, mice exhibit reduced or almost undetectable a- and b-waves compared with control mice
|
|
• moderately increased apoptosis in the retina at E15.5, E17.5 (8-fold), P0 (3.5-fold) and P35
|
|
• at E15.5 and E17.5, retinas exhibit a disorganized pattern of proliferating cells unlike in control mice
|
|
• slightly in the retina at E17.5
|
|
• in the retina at P21, P35 and P60
|
|
• in the retina at P21, P35 and P60
|
|
• in the retina at P21, P35 and P60
|
|
• during early postnatal stages and progressively worsening at later stages
|
|
• some photoreceptors lack both inner and outer segments
|
|
• in some mice at P14 and P60
|
|
• in some mice at P14 and P60
|
|
• cells are reduced in size and are rounded unlike in control cells
|
|
• in some mice at P14 and P60
|
|
• in some mice at P14 and P60
|
|
• pseudorossettes of abnormal rod aggregations contain short and distorted outer and inner segments
|
|
• during early postnatal stages and progressively worsening at later stages
|
|
• in the retina at P21, P35 and P60
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Leber congenital amaurosis | DOID:14791 |
OMIM:PS204000 |
J:184469 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 05/07/2024 MGI 6.23 |
|
|
|
||
Analysis Tools