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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(HDexon1)61Gpb
transgene insertion 61, Gillian Bates
MGI:2389466
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Neil1tm1Bjor/Neil1tm1Bjor
Tg(HDexon1)61Gpb/0
involves: C57BL/6 * C57BL/6J * CBA MGI:5441507
tg2
Tg(HDexon1)61Gpb/0 involves: C57BL/6 * C57BL/6J * CBA MGI:5441508
tg3
Tg(HDexon1)61Gpb/0 involves: C57BL/6 * CBA/J MGI:2653603
tg4
Tg(HDexon1)61Gpb/? involves: C57BL/6 * CBA MGI:3757562


Genotype
MGI:5441507
cx1
Allelic
Composition
Neil1tm1Bjor/Neil1tm1Bjor
Tg(HDexon1)61Gpb/0
Genetic
Background
involves: C57BL/6 * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Neil1tm1Bjor mutation (0 available); any Neil1 mutation (17 available)
Tg(HDexon1)61Gpb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• germline and somatic repeat tract stability is greater than in Tg(HDexon1)61Gpb mice
• reduced somatic and germline repeat expansion is more pronounced in male mice compared with female mice




Genotype
MGI:5441508
tg2
Allelic
Composition
Tg(HDexon1)61Gpb/0
Genetic
Background
involves: C57BL/6 * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(HDexon1)61Gpb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• mice exhibit somatic and germline repeat tract expansion unlike in Neil1tm1Bjor/Neil1tm1Bjor Tg(HDexon1)61Gpb mice




Genotype
MGI:2653603
tg3
Allelic
Composition
Tg(HDexon1)61Gpb/0
Genetic
Background
involves: C57BL/6 * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(HDexon1)61Gpb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• retinal dysplasia covers more than 50% of the entire retina
• progressive, late onset of retinopathy, with first histological abnormalities seen at around 16 weeks of age
• misplaced photoreceptor nuclei are seen in the segment layers at 32 weeks of age
• inner segment is reduced in thickness at 32 weeks of age
• outer segment is reduced in thickness at 32 weeks of age
• outer nuclear layer of the retina at 32 weeks of age exhibits an irregular and wavy shape, disrupted with folds and whorls
• misplaced photoreceptor nuclei are seen in the outer plexiform layer at 32 weeks of age
• however, no inner plexiform layer or ganglion cell layer abnormalities
• white spots over retina
• ERG recordings at 32 weeks of age show an overall dysfunction of the retina, with a reduction of both a- and b-waves at maximal intensities
• light-adapted ERG responses are completely suppressed
• the dark-adapted ERG a-wave amplitude at the maximum intensity is reduced by 50% and b-wave by 70%
• a decrease in the b-wave amplitude compared with that of the a-wave indicated that rod bipolar cells postsynaptic to photoreceptors are functionally altered

nervous system
• misplaced photoreceptor nuclei are seen in the segment layers at 32 weeks of age
• inner segment is reduced in thickness at 32 weeks of age
• outer segment is reduced in thickness at 32 weeks of age
• nuclear inclusions are seen in the retina




Genotype
MGI:3757562
tg4
Allelic
Composition
Tg(HDexon1)61Gpb/?
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(HDexon1)61Gpb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• striatal neurons have prominent and frequent indentations of the nuclear membrane and an apparent increase in the clustering and number of nuclear pores
• males with a CAG repeat length of 134-138 exhibit a 2-fold increase in c-Fos positive neurons in the forebrain and hindbrain
• inclusions are observed within neurons of cerebral cortex, striatum, cerebellum, spinal cord and to a much lesser degree in the hippocampus, thalamus, globus pallidus and substantia nigra
• htt immunoreactive inclusions are seen in approximately 20% of neurons
• in the striatum, ultrastructural analysis of inclusions reveals a prominent, roughly circular, pale structure
• inclusions are granular with occasional filamentous structures around the periphery; they are larger than the nucleolus and occupy 1% of nuclear volume

behavior/neurological
• impaired performance in location recognition test is observed by 14 weeks of age
• in the last of a series of Barnes circular maze trials, the time required to locate the escape tunnel is increased in 12 week old transgenic mice as compred to wildtype
• 12 week old transgenic mice raised in an enriched environment perform as well as non-enriched wildtype in circular maze trials
• in the last of a series of Barnes circular maze trials, the time required to locate the escape tunnel is increased in 12 week old transgenic mice as compared to wildtype
• 12 week old transgenic mice raised in an enriched environment perform as well as non-enriched wildtype in circular maze trials
• transgenic mice use both serial and spatial search strategies in the ultimate trials of the circular maze as compared to wildtype and enriched transgenic mice, which primarily use spatial search strategies
• beginning at 12 weeks of age, transgenic mice exhibit a deficit in short term memory as evaluated by performance in the Y-maze
• males with 134-138 CAG repeats exhibit progressive development of motor abnormalities
• in males with 134-138 CAG repeats
• between 8-12 weeks of age, transgenic mice perform on the rotarod as well as wildtype, however, by 14 weeks performance decreases and by 20 weeks performance is significantly impaired

cardiovascular system
• males with 134-138 CAG repeats exhibit a smaller left ventricular cardiomyocyte diameter at 3 and 7 months of age
• however, no signs of cardiomyocyte disarray or overt fibrosis
• males with 134-138 CAG repeats show an absence of 24 hour variation of heart rate that is seen in wild-type mice and higher heart rate levels in both the dark and light phases at 3.5 months of age, but lower heart rate during the active (dark) phase at 6.5 months of age
• 3.5 month old males with 134-138 CAG repeats exhibit a slower restoration of heart rate towards baseline in response to shake stress test
• 6.5 month old males with 134-138 CAG repeats show a tendency for a reduced peak change in heart rate response to the shake stress test and slower recovery towards the baseline
• heart rate response to the beta-adrenergic agonist isoproterenol is attenuated in 6.5 month old conscious males with 134-138 CAG repeats
• the blunted heart rate response to isoproterenol in mutants is normalized to wild-type levels by atropine pre-treatment
• males with 134-138 CAG repeats show sinus arrhythmia at 3.5 and 6.5 months of age
• in males with 134-138 CAG repeats at 3.5 and 6.5 months of age
• males with 134-138 CAG repeats exhibit unstable heart rate compared to wild-type mice, showing chaotic heart rate rhythm and irregular beat-to-beat R-R intervals
• males with 134-138 CAG repeats show a variety of arrhythmias at 3.5 and 6.5 months of age, including atrial-ventricular conduction blockade, sinus arrhythmia, atrial flutter, atrial fibrillation, supra-ventricular and ventricular premature beats, and short episodes of ventricular tachycardia
• in males with 134-138 CAG repeats at 3.5 and 6.5 months of age
• in males with 134-138 CAG repeats at 3.5 and 6.5 months of ag
• males with 134-138 CAG repeats show a variety of arrhythmias at 3.5 and 6.5 months of age, including atrial-ventricular conduction blockade
• males with 134-138 CAG repeats exhibit unstable RR intervals that are reversed following atropine treatment
• males with 134-138 CAG repeats exhibit cessation of body weight gain prior to the age when they exhibit typical motor abnormalities

growth/size/body
• males with 134-138 CAG repeats exhibit cessation of body weight gain prior to the age when they exhibit typical motor abnormalities

homeostasis/metabolism
• males with 134-138 CAG repeats show 6-fold higher plasma levels of noradrenaline at 7, but not 3.5, months of age
• noradrenaline content in the left ventricle of males with 134-138 CAG repeats is 40% lower at 7 months of age

mortality/aging
• 3 of 16 males die at 6-7 months of age due to sudden cardiac death

muscle
• males with 134-138 CAG repeats exhibit a smaller left ventricular cardiomyocyte diameter at 3 and 7 months of age
• however, no signs of cardiomyocyte disarray or overt fibrosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Huntington's disease DOID:12858 OMIM:143100
J:42085 , J:203027





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last database update
01/04/2022
MGI 6.17
The Jackson Laboratory