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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Klc1tm1Gsn
targeted mutation 1, Lawrence S B Goldstein
MGI:2136259
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Klc1tm1Gsn/Klc1tm1Gsn B6.129-Klc1tm1Gsn MGI:4429145
hm2
Klc1tm1Gsn/Klc1tm1Gsn either: (involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) MGI:3582994
hm3
Klc1tm1Gsn/Klc1tm1Gsn involves: 129S1/Sv * 129X1/SvJ MGI:4949219
cx4
Klc1tm1Gsn/Klc1+
Tg(APP695)3Dbo/?
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6 MGI:3582996


Genotype
MGI:4429145
hm1
Allelic
Composition
Klc1tm1Gsn/Klc1tm1Gsn
Genetic
Background
B6.129-Klc1tm1Gsn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klc1tm1Gsn mutation (1 available); any Klc1 mutation (40 available)
phenotype observed in females
phenotype observed in males
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
• axonal swelling observed in ventral roots of spinal cord
• proximal axonal swelling is visible in cervical spinal cord, swelling is progressive and age-dependent
• 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




Genotype
MGI:3582994
hm2
Allelic
Composition
Klc1tm1Gsn/Klc1tm1Gsn
Genetic
Background
either: (involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klc1tm1Gsn mutation (1 available); any Klc1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• significantly smaller than normal

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




Genotype
MGI:4949219
hm3
Allelic
Composition
Klc1tm1Gsn/Klc1tm1Gsn
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klc1tm1Gsn mutation (1 available); any Klc1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• neurons exhibit impaired anterograde and retrograde vesicle transport compared with wild-type cells




Genotype
MGI:3582996
cx4
Allelic
Composition
Klc1tm1Gsn/Klc1+
Tg(APP695)3Dbo/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klc1tm1Gsn mutation (1 available); any Klc1 mutation (40 available)
Tg(APP695)3Dbo mutation (0 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Alzheimer Disease; AD 104300 J:96346





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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory