Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein

Table 1 Transmission study of human, genetic mutant Y226X PrP isolate to tg66 transgenic mice expressing human PrP

Mouse number	DPI	PrPSc IHC	PrPSc western blot	Clinical TSE suspect	Clinical notes (reason for euth) & relevant necropsy findings
B321–3	77^a	–	nt	No	normal
B325–2	77^a	–	nt	No	normal
B326–1	240^a	–	nt	No	normal
B326–2	240^a	–	nt	No	normal
B326–3	509^a	–	nt	No	normal
B326–4	509^a	–	nt	No	normal
B323–1	593	+	+	No	injury necessitating euthanasia
B322–1	601	+	+	Yes	urine scalding, ataxic, poor nest, thin, dilated, thickened uterus, consolidated lung lobe
B322–2	609	–	–	Yes	thin, circling, kyphosis, poor nesting, ataxic, tippy-toed gait
B323–2	680	–	–	Yes	thin, hunched, progressive paraparesis, bilaterally distended and inflamed uterus
B324–1	716	+	+	No	tremor, mild ataxia, abnormal respirations, good body condition
B323–3	718	+	+	Yes	Weight loss, poor coat quality, hunched posture
B326–5	720^a	–	–	No	old age, thin
B324–2	762	–	–	Yes	thin, hunched, wobbly

^a- Indicates mice that were stereotactically microinjected into the striatum. As described in the methods, this technique was used to facilitate possible early detection of PrPSc replication at the site of the needle track, as was previously demonstrated [9]. Mice injected using this technique were euthanized electively and tissues were processed to directly screen the injection needle track and adjacent brain by IHC for any PrP replication. Mice without asterisks were intracerebrally inoculated with a 30ul volume of brain homogenate and euthanized when they developed neurologic signs consistent with prion infection or when they developed conditions requiring euthanasia for humane reasons. nt = not tested

ISSN: 2051-5960