MGI phenotypes (allele matching)
B6.129S4-Agatm1Pltn/Kieg
| Status | Available to order |
| EMMA ID | EM:00403 |
| International strain name | B6.129S4-Agatm1Pltn/Kieg |
| Alternative name | Ko-B6-AGU/KTL |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Agatm1Pltn |
| Gene/Transgene symbol | Aga |
Information from provider
| Provider | Anu Jalanko |
| Provider affiliation | National Public Health Institute |
| Genetic information | The coding region of the aspartylglucosaminidase (Aga) gene is 1040 bp both in human and mouse, with 82.4% homology at the level of cDNA and 84.4% at the level of polypeptide sequence. The mouse Aga gene is 11 kb and contains 9 exons and 8 introns corresponding to the human gene. The construct for homologous recombination contained 8 kb of the gene with a neomycin resistance cassette introduced in exon 8. The neo cassette interrupts the reading frame and inactivates the Aga gene. In homozygous mutant mice the 1.2 kb wild-type mRNA was not shown in Northern blot analysis and also Aga activity could not be detected. |
| Phenotypic information | Mice show secretion of glycoasparagines into urine, increased body weight, lysosomal vacuolation in brain, liver, spleen, kidney, skin and cartilage (other tissues have not been studied). In MRI studies subtle changes in myelination and central brain atrophy have been found. Thickening of the cortex of long bones and grossly dilated urine bladder have been found in skeletal pathology studies. Main symptoms in mouse are motor impairment, passive behavior and impaired cognitive function at the age of 1 year. Life expectancy for mouse is more than 18 months. |
| Breeding history | Backcrossed 11 generations to C57BL/6. |
| References |
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Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Aspartylglucosaminuria / Orphanet_93
MGI phenotypes (gene matching)
- hydronephrosis / MGI
- distended urinary bladder / MGI
- abnormal urinary bladder urothelium morphology / MGI
- abnormal brain ventricle morphology / MGI
- abnormal cerebellum morphology / MGI
- Purkinje cell degeneration / MGI
- increased body weight / MGI
- ataxia / MGI
- impaired coordination / MGI
- short stride length / MGI
- abnormal spatial learning / MGI
- disheveled coat / MGI
- impaired limb coordination / MGI
- impaired balance / MGI
- multifocal hepatic necrosis / MGI
- premature death / MGI
- neurodegeneration / MGI
- renal interstitial fibrosis / MGI
- astrocytosis / MGI
- anuria / MGI
- abnormal kidney calyx morphology / MGI
- kidney atrophy / MGI
- abnormal lysosome morphology / MGI
- neurogenic bladder / MGI
- abnormal renal glomerulus morphology / MGI
- behavior/neurological phenotype / MGI
- abnormal axon morphology / MGI
- abnormal cerebral hemisphere morphology / MGI
- abnormal urine homeostasis / MGI
- renal tubule atrophy / MGI
- enlarged brain ventricles / MGI
- colorless urine / MGI
- aspartylglucosaminuria / MGI
Literature references
- Monitoring the CNS pathology in aspartylglucosaminuria mice.;Tenhunen K, Uusitalo A, Autti T, Joensuu R, Kettunen M, Kauppinen R A, Ikonen S, LaMarca M E, Haltia M, Ginns E I, Jalanko A, Peltonen L, ;1998;Journal of neuropathology and experimental neurology;57;1154-63; 9862638
- Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.;Jalanko A, Tenhunen K, McKinney C E, LaMarca M E, Rapola J, Autti T, Joensuu R, Manninen T, Sipilä I, Ikonen S, Riekkinen P, Ginns E I, Peltonen L, ;1998;Human molecular genetics;7;265-72; 9425233
- Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.;Järvelä I, Sainio M, Rantamäki T, Olkkonen V M, Carpén O, Peltonen L, Jalanko A, ;1998;Human molecular genetics;7;85-90; 9384607
- Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons.;Kyttälä A, Heinonen O, Peltonen L, Jalanko A, ;1998;The Journal of neuroscience : the official journal of the Society for Neuroscience;18;7750-6; 9742145
- Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.;Peltola M, Kyttälä A, Heinonen O, Rapola J, Paunio T, Revah F, Peltonen L, Jalanko A, ;1998;Gene therapy;5;1314-21; 9930336
- Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation.;Laine M, Richter J, Fahlman C, Rapola J, Renlund M, Peltonen L, Karlsson S, Jalanko A, ;1999;Experimental hematology;27;1467-74; 10480438