Phenotypes Associated with This Genotype

Genotype
MGI:5433858

• Allelic Composition: Slc4a4^tm1.1Slin/Slc4a4^tm1.1Slin
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:186877 )

• die before 23 days of age

• survival can be prolonged with alkali therapy but treatment with NaCl shortens survival time to 18 days

growth/size/body

decreased body size ( J:186877 )

postnatal growth retardation ( J:186877 )

• slower growth compared to controls

• alkali treatment increases weight gain

enlarged spleen ( J:186877 )

• remarkably enlarged

• attenuated by alkali treatment

increased spleen weight ( J:186877 )

renal/urinary system

renal tubular acidosis ( J:186877 )

• severe proximal renal tubular acidosis

abnormal urine homeostasis ( J:186877 )

• hypercitraturia

increased urine calcium level ( J:186877 )

increased urine sodium level ( J:186877 )

• high urine Na+ excretion

decreased urine osmolality ( J:186877 )

decreased urine pH ( J:186877 )

abnormal renal tubule epithelium morphology ( J:186877 )

• flattening of epithelial cells

decreased kidney weight ( J:186877 )

renal tubule atrophy ( J:186877 )

dilated renal tubule ( J:186877 )

• in the cortex

abnormal renal reabsorption ( J:186877 )

• decrease in the rate of HCO3- absorption in renal proximal tubules from alkali treated mice

homeostasis/metabolism

abnormal blood homeostasis ( J:186877 )

acidemia ( J:186877 )

increased circulating aldosterone level ( J:186877 )

increased circulating calcium level ( J:186877 )

increased circulating renin level ( J:186877 )

uremia ( J:186877 )

• predominantly prerenal azotemia

edema ( J:186877 )

• edematous changes in the cornea in mice receiving alkali therapy

acidosis ( J:186877 )

• decrease in HCO3- concentration and increase in blood Cl- concentration

metabolic acidosis ( J:186877 )

renal tubular acidosis ( J:186877 )

• severe proximal renal tubular acidosis

abnormal urine homeostasis ( J:186877 )

• hypercitraturia

increased urine calcium level ( J:186877 )

increased urine sodium level ( J:186877 )

• high urine Na+ excretion

decreased urine osmolality ( J:186877 )

decreased urine pH ( J:186877 )

digestive/alimentary system

abnormal intestine morphology ( J:186877 )

• shrunken

abnormal intestine physiology ( J:186877 )

• impacted

hematopoietic system

enlarged spleen ( J:186877 )

• remarkably enlarged

• attenuated by alkali treatment

increased spleen weight ( J:186877 )

anemia ( J:186877 )

decreased hemoglobin content ( J:186877 )

• lower hemoglobin concentration

reticulocytosis ( J:186877 )

• increased reticulocyte percentage

muscle

decreased gastrocnemius weight ( J:186877 )

vision/eye

cornea opacity ( J:186877 )

• when survival is prolonged beyond 28 days

• results from edematous changes in the cornea

skeleton

abnormal skeleton morphology ( J:186877 )

• severe bone dysplasia

• dysplasia is attenuated by alkali treatment

increased long bone epiphyseal plate size ( J:186877 )

• thickened

decreased length of long bones ( J:186877 )

abnormal compact bone morphology ( J:186877 )

• decrease in the ratio of cortical to total cross-sectional area

cardiovascular system

abnormal blood circulation ( J:186877 )

• poor perfusion of organs

immune system

enlarged spleen ( J:186877 )

• remarkably enlarged

• attenuated by alkali treatment

increased spleen weight ( J:186877 )

limbs/digits/tail

decreased gastrocnemius weight ( J:186877 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal tubular acidosis		DOID:14219	OMIM:179830 OMIM:267200 OMIM:602722	J:186877