Phenotypes associated with this allele

• Allele Symbol: Btbd9^{Gt(RRE078)Byg}
• Allele Name: gene trap RRE078, BayGenomics
• Allele ID: MGI:4127237
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Btbd9^Gt(RRE078)Byg/Btbd9^Gt(RRE078)Byg	involves: 129P2/OlaHsd	MGI:6488225
hm2	Btbd9^Gt(RRE078)Byg/Btbd9^Gt(RRE078)Byg	involves: 129P2/OlaHsd * C57BL/6	MGI:5438092
ht3	Btbd9^Gt(RRE078)Byg/Btbd9^+	involves: 129P2/OlaHsd * C57BL/6	MGI:5438094

Genotype
MGI:6488225

hm1

• Allelic Composition: Btbd9^{Gt(RRE078)Byg}/Btbd9^{Gt(RRE078)Byg}
• Genetic Background: involves: 129P2/OlaHsd

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

nervous system

abnormal nervous system physiology ( J:282582 , J:298663 )

• manganese-enhanced magnetic resonance image recordings show increased cortical (most significant in the primary somatosensory cortex and the rostral piriform cortex) but decreased hippocampal (in the dentate gyrus) neural activity (J:282582)

• manganese-enhanced magnetic resonance image recordings show decreased neural activity in certain cerebellar regions, especially in lobules VIII, lobules X, and the deep cerebellar nuclei (J:298663)

Genotype
MGI:5438092

hm2

• Allelic Composition: Btbd9^{Gt(RRE078)Byg}/Btbd9^{Gt(RRE078)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

nervous system

abnormal synaptic plasticity ( J:187734 )

• paired pulse ratios at three different inter-stimulus intervals are enhanced suggesting a defect in short term plasticity

• enhanced long term potentiation suggests a defect in long term plasticity

enhanced long-term potentiation ( J:187734 )

• suggesting a defect in long term plasticity

abnormal miniature excitatory postsynaptic currents ( J:187734 )

• decreased frequency and amplitude but no changes in rise or decay times

increased paired-pulse ratio ( J:187734 )

• paired pulse ratios at three different inter-stimulus intervals are enhanced

behavior/neurological

enhanced contextual conditioning behavior ( J:187734 )

enhanced cued conditioning behavior ( J:187734 )

increased locomotor activity ( J:187433 )

• travel a greater distance in an open field assay

• increase in activity when placed in constant darkness but significant alterations in circadian rhythms

unidirectional circling ( J:187433 )

• increase in counterclockwise circling but no difference in clockwise circling

abnormal sleep pattern ( J:187433 )

• decrease in slow wave sleep and increase in awake time but no change in REM

• increase in arousals

abnormal thermosensation ( J:187433 )

• decrease in response time to a warm stimulus in a tail flick assay

• treatment with ropinirole rescues the sensory alteration

homeostasis/metabolism

increased circulating iron level ( J:187433 )

abnormal metabolism ( J:187433 )

• increase in 5-HIAA, a metabolite of serotonin, in the striatum suggesting an alteration in serotonin metabolism

• however, no alteration in serotonin levels are detected in the striatum

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
restless legs syndrome		DOID:0050425	OMIM:PS102300	J:187433

Genotype
MGI:5438094

ht3

• Allelic Composition: Btbd9^{Gt(RRE078)Byg}/Btbd9⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

behavior/neurological

abnormal thermosensation ( J:187433 )

• decrease in response time to a warm stimulus in a tail flick assay administered during the middle of the active phase but not when the test is administered during the middle of the active phase

• decrease is less than that in homozygous mice