Mouse Genome Informatics
hm1
    Klc1tm1Gsn/Klc1tm1Gsn
B6.129-Klc1tm1Gsn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• reduction of white matter is observed in corpus callosum
• phosphorylated tau deposits are observed in ventral axons along roots of the spinal cord, however, no abnormal accumulations are observed in neuronal cell bodies
• soluble levels of total and phosphorylated tau are increased in brainstem and spinal cord, and insoluble tau forms are increased in spinal cord, however, overall levels are similar to wild-type
• proximal axonal swelling is visible in cervical spinal cord, swelling is progressive and age-dependent
• axonal swelling observed in ventral roots of spinal cord
• the number of large caliber axons are reduced in peripheral motor roots
• swollen and distended axons with disrupted microtubule networks, anomalous tubuloreticular structures and atypical accumulations of membrane stacks are observed in hippocampal neurons
• reduction of white matter is observed in the cervical spinal cord
• degeneration is observed in the corpus callosum, anterior commissure of the brain in 18 month old mice
• giant axonal enlargements are observed proximal to motor neuron cell bodies in ventral spinal cord
• giant dystrophies have massive neurofilament accumulation with intermingled vesicles
• polarized neurons transiently transfected with a YFP-APP fusion exhibit a decrease in the proportion of amyloid precursor protein (APP) vesicles moving in the anterograde direction, an increase in retrograde vesicles and a reduction in net velocity and average run length for anterograde and retrograde vesicles
• phosphorylated neurofilaments are increased in the dentate gyrus and CA1 region in 18 month old mice


Mouse Genome Informatics
hm2
    Klc1tm1Gsn/Klc1tm1Gsn
either: (involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• significantly smaller than normal

behavior/neurological
• reduced ability to hang upside down from chicken wire


Mouse Genome Informatics
hm3
    Klc1tm1Gsn/Klc1tm1Gsn
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• neurons exhibit impaired anterograde and retrograde vesicle transport compared with wild-type cells


Mouse Genome Informatics
cx4
    Klc1tm1Gsn/Klc1+
Tg(APP695)3Dbo/?

involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• levels of amyloid beta are consistently elevated relative to controls
• increased axonal swelling independent of amyloid deposition

homeostasis/metabolism
• levels of amyloid beta are consistently elevated relative to controls

Mouse Models of Human Disease
OMIM IDRef(s)
Alzheimer Disease; AD 104300 J:96346