Phenotypes associated with this allele

• Allele Symbol: Tardbp^em1Rhbr
• Allele Name: endonuclease-mediated mutation 1, Robert Brown Jr
• Allele ID: MGI:6157626
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tardbp^em1Rhbr/Tardbp^em1Rhbr	C57BL/6J-Tardbp^em1Rhbr	MGI:6187717
ht2	Tardbp^em1Rhbr/Tardbp^+	C57BL/6J-Tardbp^em1Rhbr	MGI:6187718

Genotype
MGI:6187717

hm1

• Allelic Composition: Tardbp^em1Rhbr/Tardbp^em1Rhbr
• Genetic Background: C57BL/6J-Tardbp^em1Rhbr

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

behavior/neurological phenotype ( J:261673 )

N • not alterations in circadian rhythmicity

abnormal cognition ( J:261673 )

♂ • learning deficits observed by 4 months of age

♂ • increase in number of training sessions for five choice serial reaction time task (measure of frontal function) to reach performance criteria as compared to wild-type

abnormal object recognition memory ( J:261673 )

♂ • deficit in choice phase of spontaneous object recognition task

cognitive inflexibility ( J:261673 )

♂ • inattention phenotype reflecting frontal or executive dysfunction

abnormal eating behavior ( J:261673 )

• increased eating by hand by 4 months of age

polyphagia ( J:261673 )

♂

impaired coordination ( J:261673 )

• reduced hanging by 4 months of age

• in males, reduced rotarod latency is observed in a 6 month old cohort

abnormal locomotor behavior ( J:261673 )

• reduced walking by 4 months of age

increased vertical activity ( J:261673 )

• increased rearing by 4 months of age

decreased stereotypic behavior ( J:261673 )

♂ • marble burying (innate digging) behavior is decreased in some mutants, however, other mutants perform similar to wild-type

growth/size/body

increased body weight ( J:261673 )

♂ • weight gain due to hyperphagia

nervous system

nervous system phenotype ( J:261673 )

♂N • no evidence is found for impairment of motor coordination or denervation or motor unit loss of the lower motor neurons

♂N • no alteration is observed in cortical thickness or cellular density

abnormal brain interneuron morphology ( J:261673 )

♂ • 25% reduction of parvalbumin-positive interneurons in the frontal cortex

abnormal GABAergic neuron morphology ( J:261673 )

♂ • 25% reduction of parvalbumin-positive interneurons in the frontal cortex

mortality/aging

preweaning lethality, incomplete penetrance ( J:261673 )

♂ • reduced numbers of males are produced

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 10		DOID:0060201	OMIM:612069	J:261673
frontotemporal dementia		DOID:9255	OMIM:600274	J:261673

Genotype
MGI:6187718

ht2

• Allelic Composition: Tardbp^em1Rhbr/Tardbp⁺
• Genetic Background: C57BL/6J-Tardbp^em1Rhbr

behavior/neurological

abnormal learning/memory/conditioning ( J:261673 )

♂ • learning deficits observed by 12 months of age

♂ • inattention phenotype reflecting frontal or executive dysfunction

abnormal object recognition memory ( J:261673 )

♂ • deficit in choice phase of spontaneous object recognition task

impaired coordination ( J:261673 )

♂ • reduced rotarod latency is observed in a 6 month old cohort

decreased stereotypic behavior ( J:261673 )

♂ • marble burying (innate digging) behavior is decreased in some mutants, however, other mutants perform similar to wild-type