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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Drd1tm2Jcd
targeted mutation 2, John Drago
MGI:3707260
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Drd1tm2Jcd/Drd1+ either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * CD-1) MGI:3709750
cn2
Drd1tm2Jcd/Drd1+
Tg(EIIa-cre)C5379Lmgd/0
involves: 129S4/SvJae * BALB/c * CD-1 * FVB/N MGI:3709752
cn3
Drd1tm2Jcd/Drd1+
Tg(Camk2a-cre)2Gsc/0
involves: 129S4/SvJae * FVB/N MGI:3709758


Genotype
MGI:3709750
ht1
Allelic
Composition
Drd1tm2Jcd/Drd1+
Genetic
Background
either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Drd1tm2Jcd mutation (0 available); any Drd1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice do not exhibit myoclonic jerks, dystonia or locomoter retardation, survive to a normal age, and are fertile




Genotype
MGI:3709752
cn2
Allelic
Composition
Drd1tm2Jcd/Drd1+
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background
involves: 129S4/SvJae * BALB/c * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Drd1tm2Jcd mutation (0 available); any Drd1 mutation (26 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at P2 mice have a small or absent milk spot and most die during the first postnatal week with some surviving to P19

nervous system
• some distortion in the normal relationship of the forebrain and hippocampus
• islands of Calleja are absent
• forebrain is smaller and volumetrically reduced by about 40% in the striatum with no change in cortical thickness
• hypercellular stratum with frequent condensed nuclear bodies
• mice have an increase apoptotic striatum cells
• some distortion in the normal relationship of the forebrain and hippocampus
• hippocampus is displayed anteriorly
• increase in reactive gliosis in the lateral stratum and along the corpus callosum
• neuropeptides substance P and dynorphin are absent
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice

behavior/neurological
• mice fail to right after spontaneous falls
• frequent falls at P2 some due to dystonia while other falls are erratic, violent, intrusive and associated with attempted movement or tactile stimulation
• falls are more myoclonic jerks than ataxia
• mice have an abnormal posture when at rest
• mice display peripheral dystonia that contributes to some falls
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice

muscle
• mice display peripheral dystonia that contributes to some falls
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice

respiratory system
• at P2 mice exhibit periodic breathing that is resolved in older pups




Genotype
MGI:3709758
cn3
Allelic
Composition
Drd1tm2Jcd/Drd1+
Tg(Camk2a-cre)2Gsc/0
Genetic
Background
involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Drd1tm2Jcd mutation (0 available); any Drd1 mutation (26 available)
Tg(Camk2a-cre)2Gsc mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• after 4 weeks, approximately 12% smaller width of the entire brain compared to controls
• at 34 weeks brains weigh 15% less than wild-type
• striatal atrophy and secondary enlargement of the lateral ventricles are observed at 4 weeks in 1 mouse and in another 5 at 6 weeks
• striatal atrophy and secondary enlargement of the lateral ventricles are observed at 4 weeks in 1 mouse and in another 5 at 6 weeks
• dramatic reduction in striatal size in the second month
• striatal volume is decreased by 60% with a 65% loss in cell numbers and 17% reduction in cell density
• decrease in dentate gyrus cell number
• hippocampus volume is decreased
• cortex volume is significantly decreased without a change in cell density or total cell number
• cortical thickness is decreased at 4,6, 8 and 30 weeks
• astrocytes had a reactive astrocyte morphology with large cell bodies and complex ramified cellular processes
• the number of reactive astrocytes (GFAP+) increases over time with a 20-fold higher number of GFAP+ cells at 9 weeks, then reduces at later time points but always remains high than in controls
• reactive astrocytes are seen in the hippocampus and cortex
• at 5 weeks, handling-induced seizures occur
• spontaneous seizures were recorded in 2 of 5 mice
• activated microglia (CD11b+) are present in the cortex, hippocampus, thalamus and caudate putamen at 3 weeks but numbers decrease over time
• at 5 weeks less microglial reactivity is seen in the thalamus and no activated microglia are seen in the cortex or hippocampus
• at 21 weeks mice are free of microglia
• interictal electroencephalogram (EEG) is abnormal

behavior/neurological
• at 4 weeks, hindlimb clasping is subtle
• at 12 weeks, frequent paroxysmal bursts of dystonic hindlimb retraction are observed
• at 14 weeks, mice sustain hindlimb clasping with trunk flexion
• at 14 weeks trunk flexion associated with hindlimb clasping
• at 6 to 9 weeks and 16 to 21 weeks, there is a decrease in chewing and shifting while total rearing is increased
• at 12 weeks, frequent paroxysmal bursts of dystonic hindlimb retraction are observed
• at 6 to 9 weeks but not at 16 to 21 weeks, mice show increases in distance covered, time spent moving and speed of movement
• increase in sniffing
• at 5 weeks, handling-induced seizures occur
• spontaneous seizures were recorded in 2 of 5 mice

muscle
• at 12 weeks, frequent paroxysmal bursts of dystonic hindlimb retraction are observed

growth/size/body
• males and females weigh 17% and 25%, respectively, less than wild-type

immune system
• activated microglia (CD11b+) are present in the cortex, hippocampus, thalamus and caudate putamen at 3 weeks but numbers decrease over time
• at 5 weeks less microglial reactivity is seen in the thalamus and no activated microglia are seen in the cortex or hippocampus
• at 21 weeks mice are free of microglia

hematopoietic system
• activated microglia (CD11b+) are present in the cortex, hippocampus, thalamus and caudate putamen at 3 weeks but numbers decrease over time
• at 5 weeks less microglial reactivity is seen in the thalamus and no activated microglia are seen in the cortex or hippocampus
• at 21 weeks mice are free of microglia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Huntington's disease DOID:12858 OMIM:143100
J:120070





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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory