Phenotypes Associated with This Genotype

Genotype
MGI:3818341

• Allelic Composition: Tdp1^Gt(XD105)Byg/Tdp1^Gt(XD105)Byg
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

nervous system

small cerebellum ( J:127605 )

• at 7, 13 and 17 months cerebellar size is reduced 6%, 10% and 15%, respectively, compared to in wild-type mice

abnormal neuron physiology ( J:127605 )

• 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

homeostasis/metabolism phenotype ( J:127605 )

N • unlike human patients with SCAN1, mice exhibit normal cholesterol levels

abnormal single-strand DNA break repair ( J:127605 )

• 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

decreased circulating serum albumin level ( J:127605 )

increased physiological sensitivity to xenobiotic ( J:127605 )

• 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 B220^lowCD43- pre-mature B cells and loss of c-Kit+ hematopoietic progenitor cells unlike similarly treated wild-type mice

cellular

abnormal single-strand DNA break repair ( J:127605 )

• 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

behavior/neurological phenotype ( J:127605 )

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 with axonal neuropathy 1		DOID:0090115	OMIM:607250	J:127605