Phenotypes associated with this allele

• Allele Symbol: Rhcg^tm1Ibmm
• Allele Name: targeted mutation 1, Claude Szpirer
• Allele ID: MGI:3818662
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rhcg^tm1Ibmm/Rhcg^tm1Ibmm	involves: 129P2/OlaHsd * C57BL/6	MGI:3818682
hm2	Rhcg^tm1Ibmm/Rhcg^tm1Ibmm	involves: 129P2/OlaHsd * CD-1	MGI:3818681

Genotype
MGI:3818682

hm1

• Allelic Composition: Rhcg^tm1Ibmm/Rhcg^tm1Ibmm
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

renal/urinary system

renal tubular acidosis ( J:141372 )

• mice show an impaired ability to excrete ammonium when drinking acidified water, barely reaching 25% of the wild-type response

growth/size/body

decreased body weight ( J:141372 )

• mice loss 20% of their body weight when given an acid load challenge in their drinking water compared to wild-type mice that do not loss weight

homeostasis/metabolism

renal tubular acidosis ( J:141372 )

• mice show an impaired ability to excrete ammonium when drinking acidified water, barely reaching 25% of the wild-type response

Genotype
MGI:3818681

hm2

• Allelic Composition: Rhcg^tm1Ibmm/Rhcg^tm1Ibmm
• Genetic Background: involves: 129P2/OlaHsd * CD-1

growth/size/body

decreased body weight ( J:141372 )

• the mean body weight is 38 grams compared to 43 grams for wild-type mice

• mice loss 20% of their body weight when given an acid loading challenge in their drinking water compared to wild-type mice that do not loss weight

renal/urinary system

decreased urine ammonia level ( J:141372 )

• ammonium excretion is reduced, with 2.22 mM ammonium per mM creatinine compared to 2.82 mM in wild-type

• these differences are enhanced under conditions of acid loading where ammonium excretion is a third to a half of wild-type

renal tubular acidosis ( J:141372 )

• mice have a 40% reduction in urinary ammonium excretion under acid loading conditions leading to acidification of blood

• luminal NH₃ entry in the cortical and medullary collecting ducts of the kidney is reduced with levels only 28-40% of wild-type levels

increased urine pH ( J:141372 )

• the pH of the urine is more alkaline with a mean of 7.68 versus 7.42 in wild-type mice

reproductive system

abnormal epididymis morphology ( J:141372 )

♂ • the pH of the epididymal fluid is significantly more acidic than controls (mean pH about 6.5 versus 6.9 in controls)

reduced male fertility ( J:141372 )

♂ • litters sired by male mutant mice are 10% smaller than controls

homeostasis/metabolism

decreased urine ammonia level ( J:141372 )

• ammonium excretion is reduced, with 2.22 mM ammonium per mM creatinine compared to 2.82 mM in wild-type

• these differences are enhanced under conditions of acid loading where ammonium excretion is a third to a half of wild-type

decreased circulating potassium level ( J:141372 )

• mean K⁺ level is 3.8 mM compared to 4.3 mM in controls

acidosis ( J:141372 )

• six days after acid loading through the addition of ammonium chloride to the drinking water, blood pH is 7.1 compared to wild-type controls that have a blood pH close to normal (about 7.3)

• mice in this model also have a lower arterial p_CO2 level, suggesting that respiratory compensation for metabolic acidosis occurs

renal tubular acidosis ( J:141372 )

• mice have a 40% reduction in urinary ammonium excretion under acid loading conditions leading to acidification of blood

• luminal NH₃ entry in the cortical and medullary collecting ducts of the kidney is reduced with levels only 28-40% of wild-type levels

increased urine pH ( J:141372 )

• the pH of the urine is more alkaline with a mean of 7.68 versus 7.42 in wild-type mice