Phenotypes associated with this allele

• Allele Symbol: Slc4a11^tm1Boet
• Allele Name: targeted mutation 1, Thomas Boettger
• Allele ID: MGI:4820767
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc4a11^tm1Boet/Slc4a11^tm1Boet	involves: 129 * C57BL/6	MGI:4820770

Genotype
MGI:4820770

hm1

• Allelic Composition: Slc4a11^tm1Boet/Slc4a11^tm1Boet
• Genetic Background: involves: 129 * C57BL/6

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

Altered cornea morphology in Slc4a11^tm1Boet/Slc4a11^tm1Boet mice

renal/urinary system

increased urine chloride ion level ( J:162968 )

• chloride excretion is increased compared to in wild-type mice

increased urine potassium level ( J:162968 )

• potassium excretion is increased compared to in wild-type mice

increased urine sodium level ( J:162968 )

• mice exhibit increased urinary loss of sodium over time compared with wild-type mice

• however, sodium urine concentration is normal

increased urine magnesium level ( J:162968 )

• magnesium excretion is increased compared to in wild-type mice

decreased urine osmolality ( J:162968 )

polyuria ( J:162968 )

vision/eye

increased Descemet membrane thickness ( J:162968 )

• thickened Descemet membrane

abnormal corneal endothelium morphology ( J:162968 )

• 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

abnormal corneal epithelium morphology ( J:162968 )

• loses the typical cuboidal shape of cells at the basal membrane and of flat cells at the surface unlike in wild-type mice

increased corneal epithelium thickness ( J:162968 )

abnormal corneal stroma morphology ( J:162968 )

• sodium and chloride concentrations are increased in the corneal stroma compared to in wild-type mice

increased corneal stroma thickness ( J:162968 )

corneal deposits ( J:162968 )

• mice exhibit an accumulation of sodium chloride crystals in the cornea unlike in wild-type mice

hearing/vestibular/ear

abnormal spiral ligament fibrocyte morphology ( J:162968 )

• contain numerous intracellular vacuolations and extracellular edemas

decreased endocochlear potential ( J:162968 )

• endocochlear potential and steady state potential are reduced compared to in wild-type mice

• however, potassium concentrations in the scala media is normal

abnormal auditory brainstem response ( J:162968 )

• at 3 weeks of age

impaired hearing ( J:162968 )

• as determined by brainstem auditory evoked potential

homeostasis/metabolism

increased urine chloride ion level ( J:162968 )

• chloride excretion is increased compared to in wild-type mice

increased urine potassium level ( J:162968 )

• potassium excretion is increased compared to in wild-type mice

increased urine sodium level ( J:162968 )

• mice exhibit increased urinary loss of sodium over time compared with wild-type mice

• however, sodium urine concentration is normal

increased urine magnesium level ( J:162968 )

• magnesium excretion is increased compared to in wild-type mice

decreased urine osmolality ( J:162968 )

skeleton

abnormal spiral ligament fibrocyte morphology ( J:162968 )

• contain numerous intracellular vacuolations and extracellular edemas