Phenotypes Associated with This Genotype

Genotype
MGI:6383176

• Allelic Composition: Mpc1^{tm1c(EUCOMM)Wtsi}/Mpc1^{tm1c(EUCOMM)Wtsi}; Tg(Six3-cre)69Frty/0
• Genetic Background: involves: C57BL/6N * DBA/2

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

vision/eye

abnormal Muller cell morphology ( J:271892 )

• activated and disorganized Muller glial cells

abnormal retina photoreceptor morphology ( J:271892 )

• abnormal inner and outer segment junction layer caused by a shed portion of an ellipsoid region with swollen mitochondria and small vacuoles

abnormal photoreceptor inner segment morphology ( J:271892 )

• small vacuoles

abnormal photoreceptor outer segment disc membrane morphology ( J:271892 )

• at P30

short photoreceptor outer segment ( J:271892 )

• slight at P14 near the optic nerve

• at P20 with progressive decrease thereafter

thin retina inner plexiform layer ( J:271892 )

• at P30

thin retina outer nuclear layer ( J:271892 )

• at P20 with progressive decrease thereafter

retina degeneration ( J:271892 )

abnormal eye physiology ( J:271892 )

• reduced retinal lactate to pyruvate ratio

• blocked glucose oxidation in retinal mitochondria with accumulation of pyruvate and aspartate and reduced intermediates, especially glutamine

• enhanced consumption of ketone bodies in the retina

• decreased acylcarnitine indicating enhanced fatty acid oxidation in the retina

• accumulation of aspartate at the expense of glutamine in the retina

• reduced oxygen consumption rate in retinal mitochondria with reduced ATP and NADH at P30

abnormal cone electrophysiology ( J:271892 )

• impaired at P30 and remaining constant until P90

abnormal rod electrophysiology ( J:271892 )

• progressive decline in a-wave responses at P30, P60 and P90

• progressive decreased b-wave responses beginning at P20

• however, response at P20 is normal

homeostasis/metabolism

abnormal glucose homeostasis ( J:271892 )

• blocked glucose oxidation in retinal mitochondria with accumulation of pyruvate and aspartate and reduced intermediates, especially glutamine

abnormal metabolism ( J:271892 )

• increased pyruvate, aspartate and proline with decreased coenzyme A, 3-hydroxybutyrate, glutamate, glutamine and glutathione in the retina

• reduced retinal lactate to pyruvate ratio

• blocked glucose oxidation in retinal mitochondria with accumulation of pyruvate and aspartate and reduced intermediates, especially glutamine

• enhanced consumption of ketone bodies in the retina

• decreased acylcarnitine indicating enhanced fatty acid oxidation in the retina

• accumulation of aspartate at the expense of glutamine in the retina

• reduced oxygen consumption rate in retinal mitochondria with reduced ATP and NADH at P30

nervous system

abnormal Muller cell morphology ( J:271892 )

• activated and disorganized Muller glial cells

abnormal retina photoreceptor morphology ( J:271892 )

• abnormal inner and outer segment junction layer caused by a shed portion of an ellipsoid region with swollen mitochondria and small vacuoles

abnormal photoreceptor inner segment morphology ( J:271892 )

• small vacuoles

abnormal photoreceptor outer segment disc membrane morphology ( J:271892 )

• at P30

short photoreceptor outer segment ( J:271892 )

• slight at P14 near the optic nerve

• at P20 with progressive decrease thereafter

cellular

abnormal Muller cell morphology ( J:271892 )

• activated and disorganized Muller glial cells