Phenotypes for Slc4a11 MGI:5524271 MGI Mouse

vision/eye

increased Descemet membrane thickness ( J:214272 )

• thickening of the Descemet membrane

abnormal cornea endothelium morphology ( J:202267 , J:214272 )

• as mice age, corneal endothelium become large and swollen with indiscrete cell boundaries unlike in wild-type mice (J:202267)

• progressive and profound disorganization over 12 to 60 weeks (J:202267)

• cell membrane ruffling at 32 weeks (J:202267)

• corneal endothelial cell density is lower at 40 weeks, but not 10 weeks, of age (J:214272)

• increase in corneal endothelial cell area in 40 week old mice (J:214272)

• mild corneal endothelial cell swelling is seen at 10 weeks of age which progresses with age and leads to increasing distortion of the hexagonal morphology of the cells (J:214272)

• destruction of the corneal endothelial cell membrane is seen at 90 weeks of age (J:214272)

• intracellular vacuolization of the corneal endothelial cell that worsens with increasing age (J:214272)

• deposition of amorphous material and disorganization of collagen fibrils in the stroma of corneal endothelial cells (J:214272)

increased cornea thickness ( J:202267 , J:214272 )

• progressive (J:202267)

cornea opacity ( J:202267 )

• hazy cornea indicating edema

homeostasis/metabolism

decreased urine creatine level ( J:214272 )

edema ( J:202267 , J:214272 )

• hazy cornea indicating edema (J:202267)

• edematous cornea (J:214272)

abnormal urine homeostasis ( J:214272 )

• concentrations of electrolytes (calcium, sodium, potassium, chloride, magnesium and creatine) in the urine are lower

decreased urine calcium level ( J:214272 )

decreased urine chloride ion level ( J:214272 )

decreased urine potassium level ( J:214272 )

decreased urine sodium level ( J:214272 )

decreased urine magnesium level ( J:214272 )

decreased urine osmolality ( J:214272 )

renal/urinary system