About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3818341
Allelic
Composition
Tdp1Gt(XD105)Byg/Tdp1Gt(XD105)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tdp1Gt(XD105)Byg mutation (0 available); any Tdp1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at 7, 13 and 17 months cerebellar size is reduced 6%, 10% and 15%, respectively, compared to in wild-type mice
• neural cells exhibit defective repair of single strand DNA break induced by camptothecin and are slower to recover following withdrawal of hydrogen peroxide or irradiation treatments compared to wild-type cells
• however, double strand DNA repair is normal

homeostasis/metabolism
N
• unlike human patients with SCAN1, mice exhibit normal cholesterol levels
• neural cells exhibit defective repair of single strand DNA break induced by camptothecin and are slower to recover following withdrawal of hydrogen peroxide or irradiation treatments compared to wild-type cells
• however, double strand DNA repair is normal
• following treatment with topotecan, mice exhibit disorganization and reduction in numbers of PCNA+ cells in the lower crypt, reduced brain size secondary to substantial weight loss, reduced spleen and thymus size associated with the near total loss of double positive immature T cells and increased apoptosis of mature T cell, reduction in B220lowCD43- pre-mature B cells and loss of c-Kit+ hematopoietic progenitor cells unlike similarly treated wild-type mice

cellular
• neural cells exhibit defective repair of single strand DNA break induced by camptothecin and are slower to recover following withdrawal of hydrogen peroxide or irradiation treatments compared to wild-type cells
• however, double strand DNA repair is normal

behavior/neurological
N
• unlike human patients with SCAN1, mice do not display ataxia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinocerebellar ataxia type 1 with axonal neuropathy DOID:0090115 OMIM:607250
J:127605


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/13/2019
MGI 6.14
The Jackson Laboratory