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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc4a11tm1Boet
targeted mutation 1, Thomas Boettger
MGI:4820767
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc4a11tm1Boet/Slc4a11tm1Boet involves: 129 * C57BL/6 MGI:4820770


Genotype
MGI:4820770
hm1
Allelic
Composition
Slc4a11tm1Boet/Slc4a11tm1Boet
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc4a11tm1Boet mutation (0 available); any Slc4a11 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Altered cornea morphology in Slc4a11tm1Boet/Slc4a11tm1Boet mice

renal/urinary system
• chloride excretion is increased compared to in wild-type mice
• potassium excretion is increased compared to in wild-type mice
• mice exhibit increased urinary loss of sodium over time compared with wild-type mice
• however, sodium urine concentration is normal
• magnesium excretion is increased compared to in wild-type mice

vision/eye
• thickened Descemet membrane
• the corneal endothelium is thickened with intracellular vacuolation compared to in wild-type mice
• sodium concentration is increased in the corneal endothelium compared to in wild-type mice
• loses the typical cuboidal shape of cells at the basal membrane and of flat cells at the surface unlike in wild-type mice
• sodium and chloride concentrations are increased in the corneal stroma compared to in wild-type mice
• mice exhibit an accumulation of sodium chloride crystals in the cornea unlike in wild-type mice

hearing/vestibular/ear
• contain numerous intracellular vacuolations and extracellular edemas
• endocochlear potential and steady state potential are reduced compared to in wild-type mice
• however, potassium concentrations in the scala media is normal
• as determined by brainstem auditory evoked potential

homeostasis/metabolism
• chloride excretion is increased compared to in wild-type mice
• potassium excretion is increased compared to in wild-type mice
• mice exhibit increased urinary loss of sodium over time compared with wild-type mice
• however, sodium urine concentration is normal
• magnesium excretion is increased compared to in wild-type mice

skeleton
• contain numerous intracellular vacuolations and extracellular edemas





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory