Phenotypes associated with this allele

• Allele Symbol: Ugcg^tm1Hjg
• Allele Name: targeted mutation 1, Hermann-Josef Grone
• Allele ID: MGI:3603453
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gal3st1^tm1.1Hjg/Gal3st1^tm1.1Hjg Ugcg^tm1Hjg/Ugcg^tm1Hjg Pax8^tm1.1(cre)Mbu/Pax8^+	involves: 129P2/OlaHsd * C57BL/6	MGI:5521180
cn2	Ugcg^tm1Hjg/Ugcg^tm1Hjg Pax8^tm1.1(cre)Mbu/Pax8^+	involves: 129P2/OlaHsd * C57BL/6	MGI:5521181
cn3	Ugcg^tm1Hjg/Ugcg^tm1.1Hjg Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3604768

Genotype
MGI:5521180

cn1

• Allelic Composition: Gal3st1^tm1.1Hjg/Gal3st1^tm1.1Hjg; Ugcg^tm1Hjg/Ugcg^tm1Hjg; Pax8^{tm1.1(cre)Mbu}/Pax8⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

mortality/aging ( J:197393 )

N • normal life span

renal/urinary system

renal/urinary system phenotype ( J:197393 )

N • normal kidney morphology and creatinine clearance

abnormal urine homeostasis ( J:197393 )

decreased urine ammonia level ( J:197393 )

• decreased ammonium excretion

• reduced ability to increase urinary ammonia

increased urine potassium level ( J:197393 )

decreased urine pH ( J:197393 )

• higher excretion of titratable acid relative to controls

• less ability to recover from high acid in the diet

abnormal kidney papilla morphology ( J:197393 )

• ammonium content of the renal papilla is reduced 30% compared to controls

polyuria ( J:197393 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:197393 )

N • normal blood pH

N • normal blood bicarbonate levels

abnormal urine homeostasis ( J:197393 )

decreased urine ammonia level ( J:197393 )

• decreased ammonium excretion

• reduced ability to increase urinary ammonia

increased urine potassium level ( J:197393 )

decreased urine pH ( J:197393 )

• higher excretion of titratable acid relative to controls

• less ability to recover from high acid in the diet

Genotype
MGI:5521181

cn2

• Allelic Composition: Ugcg^tm1Hjg/Ugcg^tm1Hjg; Pax8^{tm1.1(cre)Mbu}/Pax8⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

mortality/aging ( J:197393 )

N • normal life span

renal/urinary system

renal/urinary system phenotype ( J:197393 )

N • normal kidney morphology and creatinine clearance

decreased urine pH ( J:197393 )

homeostasis/metabolism

decreased urine pH ( J:197393 )

Genotype
MGI:3604768

cn3

• Allelic Composition: Ugcg^tm1Hjg/Ugcg^tm1.1Hjg; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:101155 )

• all mutants die by 24 days of age with a median age of lethality of 18 days

homeostasis/metabolism

abnormal lipid homeostasis ( J:101155 )

• ceramide concentration in the brain is decreased about 1.7-fold at P0 and P15, but sphingomyelin levels are consistently increased after birth

behavior/neurological

impaired righting response ( J:101155 )

• when placed on their ridge mutants take about 6 seconds to roll over compared to less than 0.5 seconds for control littermates

limb grasping ( J:101155 )

ataxia ( J:101155 )

• mutants develop severe ataxia with a shuffling gait and strong equilibrium impairments

impaired balance ( J:101155 )

• mutants are unable to balance on a rotating rod

abnormal gait ( J:101155 )

• shuffling gait

nervous system

abnormal Purkinje cell morphology ( J:101155 )

• the dendritic tree shows decreased height and arborization in mutant cerebella

• in culture neurite length and the number of branching points are decreased for Purkinje cells from E15.5 mutant embryos

abnormal axon morphology ( J:101155 )

• surface area of the axon of the femoral nerve is increased

abnormal myelination ( J:101155 )

• myelin surface area of the femoral nerve is increased and in some mutants splitting of the myelin sheath is seen

growth/size/body

decreased body weight ( J:101155 )

• body weight is similar to control littermates at birth, but after birth mutants gain less weight than their control littermates