Phenotypes associated with this allele

• Allele Symbol: Btbd9^{tm1c(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:6384248
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Btbd9^tm1c(EUCOMM)Wtsi/Btbd9^tm1c(EUCOMM)Wtsi Tg(Pcp2-cre)2Mpin/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N	MGI:6488227
cn2	Btbd9^tm1c(EUCOMM)Wtsi/Btbd9^tm1c(EUCOMM)Wtsi Emx1^tm1(cre)Yql/Emx1^+	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N	MGI:6488233

Genotype
MGI:6488227

cn1

• Allelic Composition: Btbd9^{tm1c(EUCOMM)Wtsi}/Btbd9^{tm1c(EUCOMM)Wtsi}; Tg(Pcp2-cre)2Mpin/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

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

behavior/neurological

increased locomotor activity ( J:298663 )

• mice exhibit an increase in voluntary activity level in the wheel-running test during the light phase, but no change during the dark phase; activity is especially high at 9 am and especially low during the 1st half of the active phase

• mice exhibit an increase in activity level during the rest (light) phase and during the active (dark) phase in the continuous open field

• however, mice show no difference in the latency to withdraw from the heat stimuli in the tail-flick test

abnormal sleep behavior ( J:298663 )

• analysis of sleep-like behaviors indicates an increase in probability of waking in the rest phase, especially at 7 am, 8 am and the 2nd half of the rest phase, but not in the active phase

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
restless legs syndrome		DOID:0050425	OMIM:PS102300	J:298663

Genotype
MGI:6488233

cn2

• Allelic Composition: Btbd9^{tm1c(EUCOMM)Wtsi}/Btbd9^{tm1c(EUCOMM)Wtsi}; Emx1^tm1(cre)Yql/Emx1⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N
• Cell Lines: EPD0631_3_A09

behavior/neurological

impaired coordination ( J:282582 )

• mice exhibit a 219% increase of slips in the beam walking test

• however, mice do not show a deficit in the rotarod test

hyperactivity ( J:282582 )

• in the continuous open field test, mice show an increase in activity level during the light phase but not dark phase indicating a rest-phase specific motor restlessness

• however, mice exhibit a similar level of total distance traveled in a 30 min open field test as controls and similar wheel running activity during both the light and dark phase as in controls

abnormal sleep behavior ( J:282582 )

• sleep analysis indicates an increased probability of waking in the light phase but not dark phase

increased thermal nociceptive threshold ( J:282582 )

• mice exhibit lower sensitivity to the heat stimuli than controls in the tail-flick test, indicating decreased thermal sensory perception

nervous system

abnormal primary motor cortex morphology ( J:282582 )

• mice exhibit thinner cortical layers in the posterior primary motor cortex

abnormal primary somatosensory cortex morphology ( J:282582 )

• mice exhibit thinner cortical layers in both the anterior and posterior part of the primary somatosensory cortex representing the hindlimb

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
restless legs syndrome		DOID:0050425	OMIM:PS102300	J:282582