Phenotypes Associated with This Genotype

Genotype
MGI:5693885

• Allelic Composition: Tbp^tm1Xjl/Tbp⁺; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

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

behavior/neurological

impaired balance ( J:213011 )

• mice injected with tamoxifen at 14 months of age, but not at 3 months, take longer to walk through a balance beam

impaired coordination ( J:213011 )

• mice injected with tamoxifen show worse rotarod performance; older mice injected with tamoxifen stay on the rod for a shorter time than younger mice injected with tamoxifen

abnormal gait ( J:213011 )

• mice injected with tamoxifen exhibit abnormal gait which is most pronounced in mice that are injected at 14 months of age

short stride length ( J:213011 )

• mice injected with tamoxifen exhibit a decrease in stride length

growth/size/body

decreased body weight ( J:213011 )

• mice injected with tamoxifen for 5 days exhibit reduced body weight

• mice injected with tamoxifen at older ages (14 months) show earlier weight loss and lose more weight than those injected at younger ages (3 and 9 months)

mortality/aging

premature death ( J:213011 )

• some 14 month old mice die starting from 40 days after tamoxifen injection, however, none of the 3 month old mice die within 3 months after injection

nervous system

Purkinje cell degeneration ( J:213011 )

• mice injected with tamoxifen at 14 months of age show severe Purkinje neuron loss after 2 months of injection, while mice injected at 9 months show a modest level of degeneration, and mice injected at 3 months of age show largely intact Purkinje neurons

abnormal Purkinje cell dendrite morphology ( J:213011 )

• dendritic branches are decreased in mice injected with tamoxifen at 14 months of age

thin cerebellar molecular layer ( J:213011 )

• molecular layer thickness is decreased in mice injected with tamoxifen at 14 months of age

skeleton

kyphosis ( J:213011 )

• hunch-back appearance of 3, 9, and 14 month old mice is seen at 130, 75, and 50 days after tamoxifen injection

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 17		DOID:0050967	OMIM:607136	J:213011