| 56217 | Q9JLB2 | PALS1_MOUSE | Protein PALS1 (MAGUK p55 subfamily member 5) (Protein associated with Lin-7 1) | DISRUPTION PHENOTYPE | Conditional knockout in the retina results in mice which are viable, fertile, and morphologically normal apart from microphthalmia with severe defects in visual response (PubMed:22398208). From 13.5 days post-conception (dpc) retinas show variable morphology, including retinal folding, variable thickness and disorganization (PubMed:22398208). Postnatally the retinal lamina is thinner, and disorganized, with a shortening or absence of the inner and outer segments of photoreceptor cells (PubMed:22398208). By postnatal day 60 retinas are completely or partially devoid of the outer nuclear layers and photoreceptor layer, and feature a reduced number of photoreceptor cells, disrupted cell polarity and impaired distribution of retinal neurons (PubMed:22398208). Retinal distribution of Par3 and the Crb polarity complex proteins Crbs and Patj is disrupted (PubMed:22398208). Mature mice show aberrant proliferation and apoptosis of retinal epithelia with significantly reduced or undetectable a- and b-waves in electroretinogram-measured dark-adapted response (PubMed:22398208). Conditional knockout in cerebellum proliferating progenitors at 13.5 dpc results in mislocalization of apical polarity complex proteins such as Crb proteins, Pard3, and Prkci at 15.5 dpc (PubMed:26657772). Following cerebellum conditional knockout there is an increase in migration and premature differentiation of Pax2-positive ventricular zone cells at 17.5 dpc, resulting in a reduced number of glial cell progenitors (PubMed:26657772). Conditional knockout in cerebellum results in stunted cerebellum growth and indistinct vermis foliation at birth, there is also an evident reduction of Bergmann glia, oligodendrocyte, astrocyte and GABAergic interneuron progenitors (PubMed:26657772). Conditional knockout in cerebellum shows compromised Purkinje cell migration and formation failure of Purkinje cell plate to contain both Bergmann glia and Purkinje cells, possibly as a result of abnormal Reln-Dab1 signaling at P6 (PubMed:26657772). Conditional knockout in cerebellum results in poorly layered, smaller lobes, severe defects in fissure formation and a reduced number of cerebellar granule neurons and GABAergic interneurons from P8 to P21 (PubMed:26657772). Conditional knockout in the cortex results in mice surviving to adulthood, with lower body weight but exhibit irregular movements with disrupted stride and gait, reduced exploratory initiative, reduced locomotor behavior and swim in circles (PubMed:20399730). Reduced cortical size and disrupted morphology at 12 and 14 dpc resulting in the absence of the cortex postnatally lacking virtually all cortical neurons, additionally extreme thinning of the lateral cortex is observed (PubMed:20399730). Reduced proliferation of cortical progenitor cells and increased cell death of postmitotic neurons in the developing medial cortex and ventral zone from 10.5 dpc, additionally mislocalization and reduced abundance of Crb2 and Prkci is evident (PubMed:20399730). RNAi-mediated knockdown in the sciatic nerve results in mislocalization of Exoc4/Sec8 and Stx4 in Schwann cells and thinning and shortening of Schwann cells as a result of a reduction in the myelinated fiber diameter caused by fewer myelin turns (PubMed:20237282). Conditional knockout of both Mpp3 and Pals1 in the retina results in an increase in retinal degeneration that becomes evident at one month of age (PubMed:23893895). {ECO:0000269|PubMed:20237282, ECO:0000269|PubMed:20399730, ECO:0000269|PubMed:22398208, ECO:0000269|PubMed:23893895, ECO:0000269|PubMed:26657772}. |