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Phenotypes Associated with This Genotype
Genotype
MGI:5524271
Allelic
Composition
Slc4a11tm1.1Jrcy/Slc4a11tm1.1Jrcy
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc4a11tm1.1Jrcy mutation (0 available); any Slc4a11 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• thickening of the Descemet membrane
• progressive (J:202267)
• 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)
• hazy cornea indicating edema

homeostasis/metabolism
• hazy cornea indicating edema (J:202267)
• edematous cornea (J:214272)
• concentrations of electrolytes (calcium, sodium, potassium, chloride, magnesium and creatine) in the urine are lower

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital hereditary endothelial dystrophy of cornea DOID:0060649 OMIM:217700
J:214272


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
05/10/2022
MGI 6.19
The Jackson Laboratory