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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Apptm1Dbo
targeted mutation 1, David R Borchelt
MGI:2136847
Summary 10 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Apptm1Dbo/Apptm1Dbo involves: 129S7/SvEvBrd * C57BL/6J MGI:2174917
cx2
Apptm1Dbo/Apptm1Dbo
Npc1m1N/Npc1m1N
C.Cg-Apptm1Dbo Npc1m1N MGI:5305067
cx3
Aplp2tm1Dbo/Aplp2tm1Dbo
Apptm1Dbo/Apptm3.1Zhe
involves: 129/Sv * 129X1/SvJ * C57BL/6 MGI:4847596
cx4
Aplp2tm1Dbo/Aplp2tm1Dbo
Apptm1Dbo/Apptm1Dbo
involves: 129/Sv * 129X1/SvJ * C57BL/6 MGI:4847597
cx5
Apptm1Dbo/Apptm1Dbo
Dab1tm1Bwh/Dab1tm1Bwh
involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 MGI:3810280
cx6
Apptm1Dbo/App+
Dab1tm1Bwh/Dab1tm1Bwh
involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 MGI:3810281
cx7
Apptm1Dbo/App+
Lrp4tm1Her/Lrp4tm1Her
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J MGI:5561077
cx8
Apptm1Dbo/Apptm1Dbo
Lrp4tm1Her/Lrp4+
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J MGI:5561078
cx9
Apptm1Dbo/Apptm1Dbo
Lrp4tm1Her/Lrp4tm1Her
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J MGI:5561079
cx10
Aplp2tm1Dbo/Aplp2tm1Dbo
Apptm1Dbo/Apptm1Dbo
involves: 129S7/SvEvBrd * C57BL/6J MGI:2176993


Genotype
MGI:2174917
hm1
Allelic
Composition
Apptm1Dbo/Apptm1Dbo
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apptm1Dbo mutation (1 available); any App mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• age-related impairment in conditioned avoidance tests, seen at 10 months of age, but not at 4 months of age
• impairment in watermaze test of spatial learning, both at 4 and 10 months of age
• significantly reduced grip strength
• decreased locomotor activity

nervous system
• reactive gliosis was observed throughout the cortical layers of the neocortex and extensive astrogliosis was seen in the CA1 region of the hippocampus, however did not observe neuronal cell damage
• reactive astrocytosis in many brain areas, but predominantly in the cortex and hippocampus at 14 weeks of age
• the branching of dendrites of both cortical and hippocampal neurons was much less extensive, however did not show any loss of cells in the cortex or the hippocampus
• impairment of ability of high frequency stimuli to induce LTP which correlated with extent of gliosis in stratum radiatum

growth/size/body
• body weight was 15-20% less at all ages compared with that of controls

Mouse Models of Human Disease
OMIM ID Ref(s)
Alzheimer Disease; AD 104300 J:53824




Genotype
MGI:5305067
cx2
Allelic
Composition
Apptm1Dbo/Apptm1Dbo
Npc1m1N/Npc1m1N
Genetic
Background
C.Cg-Apptm1Dbo Npc1m1N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apptm1Dbo mutation (1 available); any App mutation (21 available)
Npc1m1N mutation (2 available); any Npc1 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants start to die at 50 days of age

growth/size/body
• mutants exhibit severe weight loss, with weight at 3 weeks of age lower than seen in single homozygous App mice, but then increases so that by 12 weeks of age, loss of body weight is similar to single Npc1 homozygotes

nervous system
• mutants exhibit a greater vesicular accumulation of and wider distribution of cholesterol in the cerebellum, the motor cortex, the hippocampus and dentate gyrus than single Npc1 homozygotes
• lower number of surviving Purkinje cells in cerebellar lobes VIII and X
• mutants exhibit a greater increase in astrocytosis and microglia activation than in single Npc1 homozygotes
• mutants exhibit demyelination in the white matter

behavior/neurological
• mutants exhibit an exacerbated motor coordination deficit than seen in single Npc1 homozygotes

homeostasis/metabolism
• mutants exhibit a greater vesicular accumulation of and wider distribution of cholesterol in the cerebellum, the motor cortex, the hippocampus and dentate gyrus than single Npc1 homozygotes




Genotype
MGI:4847596
cx3
Allelic
Composition
Aplp2tm1Dbo/Aplp2tm1Dbo
Apptm1Dbo/Apptm3.1Zhe
Genetic
Background
involves: 129/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aplp2tm1Dbo mutation (1 available); any Aplp2 mutation (15 available)
Apptm1Dbo mutation (1 available); any App mutation (21 available)
Apptm3.1Zhe mutation (0 available); any App mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although born in Mendelian ratios, few mice survive to adulthood

nervous system
• neuromuscular junction exhibit mislocalization of choline transporters and reduced synaptophysin staining compared with wild-type mice




Genotype
MGI:4847597
cx4
Allelic
Composition
Aplp2tm1Dbo/Aplp2tm1Dbo
Apptm1Dbo/Apptm1Dbo
Genetic
Background
involves: 129/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aplp2tm1Dbo mutation (1 available); any Aplp2 mutation (15 available)
Apptm1Dbo mutation (1 available); any App mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although born in Mendelian ratios, no mice survive to weaning




Genotype
MGI:3810280
cx5
Allelic
Composition
Apptm1Dbo/Apptm1Dbo
Dab1tm1Bwh/Dab1tm1Bwh
Genetic
Background
involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apptm1Dbo mutation (1 available); any App mutation (21 available)
Dab1tm1Bwh mutation (0 available); any Dab1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the cerebellum volume is not as small as in Dab1tm1Bwh homozygotes




Genotype
MGI:3810281
cx6
Allelic
Composition
Apptm1Dbo/App+
Dab1tm1Bwh/Dab1tm1Bwh
Genetic
Background
involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apptm1Dbo mutation (1 available); any App mutation (21 available)
Dab1tm1Bwh mutation (0 available); any Dab1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the cerebellum volume is not as small as in Dab1tm1Bwh homozygotes




Genotype
MGI:5561077
cx7
Allelic
Composition
Apptm1Dbo/App+
Lrp4tm1Her/Lrp4tm1Her
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apptm1Dbo mutation (1 available); any App mutation (21 available)
Lrp4tm1Her mutation (1 available); any Lrp4 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 20 of 49 mice die within 5 months




Genotype
MGI:5561078
cx8
Allelic
Composition
Apptm1Dbo/Apptm1Dbo
Lrp4tm1Her/Lrp4+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apptm1Dbo mutation (1 available); any App mutation (21 available)
Lrp4tm1Her mutation (1 available); any Lrp4 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 6 of 45 mice die within 5 months




Genotype
MGI:5561079
cx9
Allelic
Composition
Apptm1Dbo/Apptm1Dbo
Lrp4tm1Her/Lrp4tm1Her
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apptm1Dbo mutation (1 available); any App mutation (21 available)
Lrp4tm1Her mutation (1 available); any Lrp4 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• despite Mendelian ratios at E18.5, fewer than expected mice are present at weaning

nervous system
• increased nerve terminal sprouting
• reduced size and density of acetylcholine clusters compared with either single homozygote

cellular
• increased nerve terminal sprouting




Genotype
MGI:2176993
cx10
Allelic
Composition
Aplp2tm1Dbo/Aplp2tm1Dbo
Apptm1Dbo/Apptm1Dbo
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aplp2tm1Dbo mutation (1 available); any Aplp2 mutation (15 available)
Apptm1Dbo mutation (1 available); any App mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• incomplete penetrance, 80% of mice die within one week of birth
• lethality is not due to cardiopulmonary function as the heart and lungs appeared normal

reproductive system
• no abnormalities in ovaries and testis, indicating that physiological or behavioral correlates, rather than anatomical aspects, are responsible for decrease in fertility

behavior/neurological
• most pups have little or no milk in stomach, however no lesions in the face, palate, esophagous, stomach, intestine, or colon were seen and cranial nerves implicated in feeding appeared normal
• by 12-36 hours after birth, double homozygous mice appear weaker, however mice exhibit normal muscle histology, abundant lower motor neurons in the ventral horn of spinal cords, and normal neuromuscular transmission

growth/size/body
• survivors lag behind in growth and are 20-30% smaller, even into adulthood, compared to controls

integument
• become pale by 12-36 hours after birth

nervous system
• at E14.5, acetylcholine receptor clusters are less robust compared to in control mice
• however, prepatterned acetylcholine receptors are distributed along the central region





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