Phenotypes associated with this allele

• Allele Symbol: Chat⁺
• Allele Name: wild type
• Allele ID: MGI:2430122
• Summary: 17 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Chat^tm1(cre)Lowl/Chat^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3689725
cn2	Chat^tm2(cre)Lowl/Chat^+ Mapt^tm2(FUS)Neas/Mapt^+	B6.129-Mapt^tm2(FUS)Neas Chat^tm2(cre)Lowl	MGI:5823845
cn3	Chat^tm2(cre)Lowl/Chat^+ Mapt^tm3(FUS)Neas/Mapt^+	B6.129-Mapt^tm3(FUS)Neas Chat^tm2(cre)Lowl	MGI:5823858
cn4	Chat^tm2(cre)Lowl/Chat^+ Mapt^tm3(Sema3e)Arbr/Mapt^tm3(Sema3e)Arbr	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:3848833
cn5	Chat^tm2(cre)Lowl/Chat^+ Mecp2^tm2Bird/Y	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J	MGI:6098759
cn6	Chat^tm2(cre)Lowl/Chat^+ Gt(ROSA)26Sor^tm9(CAG-tdTomato)Hze/Gt(ROSA)26Sor^+ Sema6a^Gt(KST069)Byg/Sema6a^Gt(KST069)Byg	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6NCr	MGI:5562538
cn7	Brsk2^tm2.1Jrs/Brsk2^tm2.1Jrs Chat^tm1(cre)Lowl/Chat^+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	MGI:5524149
cn8	Mc4r^tm1Lowl/Mc4r^tm1Lowl Chat^tm1(cre)Lowl/Chat^+	involves: 129S4/SvJae * 129S6/SvEvTac	MGI:5484740
cn9	Mecp2^tm1Jae/Y Chat^tm2(cre)Lowl/Chat^+	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J	MGI:6098756
cn10	Aplp2^tm1Dbo/Aplp2^tm1Dbo App^tm1.1Zhe/App^tm1.1Zhe Chat^tm2(cre)Lowl/Chat^+	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J	MGI:4359069
cn11	Atxn1^em5Hzo/Atxn1^+ Chat^tm2(cre)Lowl/Chat^+	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J	MGI:8447723
cn12	Fus^tm1a(EUCOMM)Wtsi/Fus^tm1c(EUCOMM)Wtsi Chat^tm2(cre)Lowl/Chat^+	involves: 129S6/SvEvTac * C3H * C57BL/6 * C57BL/6N	MGI:5823868
cn13	Chat^tm1(cre)Lowl/Chat^+ Fus^tm1Ics/Fus^+	involves: 129S6/SvEvTac * C57BL/6	MGI:8435668
cn14	Chat^tm2(cre)Lowl/Chat^+ Stmn2^em2Jmi/Stmn2^em2Jmi	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6N	MGI:7523313
cn15	Chat^tm2(cre)Lowl/Chat^+ Plxna2^tm1a(EUCOMM)Wtsi/Plxna2^tm1Hfu	involves: 129S6/SvEvTac * C57BL/6N * CBA/JNCrlj	MGI:5562536
cn16	Mc4r^tm2Lowl/Mc4r^tm2Lowl Chat^tm1(cre)Lowl/Chat^+ Gt(ROSA)26Sor^tm14(CAG-tdTomato)Hze/Gt(ROSA)26Sor^+	involves: 129S6/SvEvTac * C57BL/6NCr	MGI:5484737
cn17	Chat^tm2(cre)Lowl/Chat^+ Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu	involves: C57BL/6 * C57BL/6J * C57BL/6NJ * SJL/J	MGI:5882505

Genotype
MGI:3689725

ht1

• Allelic Composition: Chat^tm1(cre)Lowl/Chat⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:114556 )

• heterozygotes are viable and fertile; cre recombinase activity is detected in all cholinergic neurons

Genotype
MGI:5823845

cn2

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Mapt^tm2(FUS)Neas/Mapt⁺
• Genetic Background: B6.129-Mapt^tm2(FUS)Neas Chat^tm2(cre)Lowl

nervous system

motor neuron degeneration ( J:232167 )

• motor neuron loss is seen at P60 but not P30, when 10% of lumbar level 5 (L5) motor neurons are lost and by P360, there are 18.6% fewer motor neurons overall in the L5 segment

abnormal neuromuscular synapse morphology ( J:232167 )

• about 10% denervation of the tibialis anterior neuromuscular junctions (NMJs), first seen at P60 which progresses with age such that at P360, about 25% of NMJs are denervated

• denervation is first noted at P120 in the gastrocnemius muscle where about 10% of NMJs are denervated

• however, even at P360, no denervation is seen in the soleus muscle NMJs

Genotype
MGI:5823858

cn3

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Mapt^tm3(FUS)Neas/Mapt⁺
• Genetic Background: B6.129-Mapt^tm3(FUS)Neas Chat^tm2(cre)Lowl

nervous system

motor neuron degeneration ( J:232167 )

• significant motor neuron loss is seen at P30 but not P10, and by P360, there are 22.6% fewer motor neurons overall in the lumbar level 5 (L5) segment

abnormal neuromuscular synapse morphology ( J:232167 )

• about 10% denervation of the tibialis anterior neuromuscular junctions, first seen at P20 which progresses with age such that at P360, about 30% of NMJs are denervated

• denervation is first noted at P120 in the gastrocnemius muscle where about 13% of NMJs are denervated

• however, even at P360, no denervation is seen in the soleus muscle NMJs

Genotype
MGI:3848833

cn4

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Mapt^{tm3(Sema3e)Arbr}/Mapt^{tm3(Sema3e)Arbr}
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

nervous system

abnormal motor neuron innervation pattern ( J:149553 )

• 23% of triceps motor neurons receive monosynaptic input from triceps afferents compared to 95% in wild-type mice

• however, triceps and cutaneous maximus motor neurons normally lack monosynaptic input from cutaneous maximus afferents

behavior/neurological

behavior/neurological phenotype ( J:149553 )

N • mice exhibit no behavior deficits

Genotype
MGI:6098759

cn5

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Mecp2^tm2Bird/Y
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J

respiratory system

abnormal respiration ( J:241788 )

♂ • abnormal hypoxic breathing response

apnea ( J:241788 )

♂

behavior/neurological

behavior/neurological phenotype ( J:241788 )

♂N • mice exhibit normal activity

cardiovascular system

cardiovascular system phenotype ( J:241788 )

♂N • mice exhibit a regular heart rate and show rescue of spontaneous and induced cardiac arrhythmias, long QT, and improved survival

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:241788 )

♂N • mice exhibit a regular body temperature

Genotype
MGI:5562538

cn6

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Gt(ROSA)26Sor^{tm9(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺; Sema6a^{Gt(KST069)Byg}/Sema6a^{Gt(KST069)Byg}
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6NCr

nervous system

abnormal inhibitory postsynaptic currents ( J:202884 )

• starburst amacrine cells in flat mount retinas show excess and aberrant light-evoked inhibitory postsynaptic currents

Genotype
MGI:5524149

cn7

• Allelic Composition: Brsk2^tm2.1Jrs/Brsk2^tm2.1Jrs; Chat^tm1(cre)Lowl/Chat⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

nervous system

nervous system phenotype ( J:201695 )

N • type Ia proprioceptive sensory neuron projections grow normally to the ventral horn

Genotype
MGI:5484740

cn8

• Allelic Composition: Mc4r^tm1Lowl/Mc4r^tm1Lowl; Chat^tm1(cre)Lowl/Chat⁺
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

cardiovascular system

hypertension ( J:193452 )

• develop obesity induced hypertension but only during active period

homeostasis/metabolism

increased circulating insulin level ( J:193452 )

• higher plasma insulin levels

Genotype
MGI:6098756

cn9

• Allelic Composition: Mecp2^tm1Jae/Y; Chat^tm2(cre)Lowl/Chat⁺
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J

mortality/aging

premature death ( J:241788 )

♂ • 67% of mice die early with a median life span of 16 months

cardiovascular system

abnormal heartbeat ( J:241788 )

♂ • irregular heart rhythm and sudden drops in heart rate

increased heart rate variability ( J:241788 )

♂ • increase in heart rate variability during both the light and dark cycles

decreased heart rate ( J:241788 )

♂ • heart rate during the dark cycle is decreased but is not different during the light cycle

ventricular tachycardia ( J:241788 )

♂ • mice show an increased rate of spontaneous ventricular arrhythmias including premature ventricular contractions and nonsustained ventricular tachycardia

ventricular premature beat ( J:241788 )

♂ • mice show an increased rate of spontaneous ventricular arrhythmias including premature ventricular contractions and nonsustained ventricular tachycardia

prolonged QT interval ( J:241788 )

♂

increased response of heart to induced stress ( J:241788 )

♂ • mice are highly susceptible to inducible arrhythmias

homeostasis/metabolism

increased response of heart to induced stress ( J:241788 )

♂ • mice are highly susceptible to inducible arrhythmias

decreased body temperature ( J:241788 )

♂ • mice exhibit decreased temperature during the dark cycle but not the light cycle

behavior/neurological

behavior/neurological phenotype ( J:241788 )

♂N • mice show no differences in activity during the light or dark cycle

respiratory system

respiratory system phenotype ( J:241788 )

♂N • mice do not exhibit increased basal apneas or abnormal hypoxic response

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:241788

Genotype
MGI:4359069

cn10

• Allelic Composition: Aplp2^tm1Dbo/Aplp2^tm1Dbo; App^tm1.1Zhe/App^tm1.1Zhe; Chat^tm2(cre)Lowl/Chat⁺
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J

nervous system

abnormal neuromuscular synapse morphology ( J:152457 )

• at P0, presynaptic and postsynaptic terminal distribution is diffuse and nerve terminal sprouting occurs unlike in wild-type mice that is not as severe as in Aplp2^tm1Dbo App^tm1.2Zhe double homozygotes

Genotype
MGI:8447723

cn11

• Allelic Composition: Atxn1^em5Hzo/Atxn1⁺; Chat^tm2(cre)Lowl/Chat⁺
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J

nervous system

neuronal intranuclear inclusions ( J:387937 )

• intranuclear ATXN1 aggregates are seen in motor neurons of aged mice, between 36 and 48 weeks of age

behavior/neurological

decreased locomotor activity ( J:387937 )

• mice show a reduction in the overall distance traveled in the open field assay

• however, mice show normal performance on the rotarod

growth/size/body

growth/size/body region phenotype ( J:387937 )

N • body weight of aged mice is not significantly different from controls

mortality/aging

mortality/aging ( J:387937 )

N • mice do not show premature death

Genotype
MGI:5823868

cn12

• Allelic Composition: Fus^{tm1a(EUCOMM)Wtsi}/Fus^{tm1c(EUCOMM)Wtsi}; Chat^tm2(cre)Lowl/Chat⁺
• Genetic Background: involves: 129S6/SvEvTac * C3H * C57BL/6 * C57BL/6N
• Cell Lines: EPD0667_5_C04

nervous system

nervous system phenotype ( J:232167 )

N • no motor neuron degeneration is seen up to 1 year of age

Genotype
MGI:8435668

cn13

• Allelic Composition: Chat^tm1(cre)Lowl/Chat⁺; Fus^tm1Ics/Fus⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:371167 )

• at 22 months of age, but not 10 months of age, mice show impaired motor performance, indicating delayed motor deficits

cellular

increased oligodendrocyte number ( J:371167 )

• oligodendrocytes are more numerous in ventral horn white matter in 22-month-old mice

muscle

muscle weakness ( J:371167 )

• 22-month-old mice show shorter hanging time and decreased holding impulse (represents the total sustained force exerted by the mouse to oppose the gravitational force) in an inverted grid test

nervous system

nervous system phenotype ( J:371167 )

N • mice show prevention of motor neuron degeneration, with normal motor neuron numbers at 22 months of age and do not develop electromyography abnormalities

increased oligodendrocyte number ( J:371167 )

• oligodendrocytes are more numerous in ventral horn white matter in 22-month-old mice

abnormal motor neuron morphology ( J:371167 )

• motor neuron axons show a distribution shifted towards smaller caliber in 22-month-old mice

Genotype
MGI:7523313

cn14

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Stmn2^em2Jmi/Stmn2^em2Jmi
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6N

mortality/aging

preweaning lethality, incomplete penetrance ( J:337175 )

• 16.8% of mice are obtained at P21, indicating a significant deviation from Mendelian ratios

behavior/neurological

decreased grip strength ( J:337175 )

• at 3 months of age, mice show a significant decrease in the latency time (s) to fall from an inverted screen relative to control mice

nervous system

abnormal neuron morphology ( J:337175 )

• mice develop a distal motor neuropathy

abnormal neuromuscular synapse morphology ( J:337175 )

• at 3 months of age, lumbrical muscles show a NMJ phenotype similar to that of single constitutive Stmn2^em1Jmi homozygotes, where most lumbrical muscle fibers are partially denervated with highly fragmented postsynaptic endplates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
motor peripheral neuropathy		DOID:2477		J:337175

Genotype
MGI:5562536

cn15

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Plxna2^{tm1a(EUCOMM)Wtsi}/Plxna2^tm1Hfu
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6N * CBA/JNCrlj

vision/eye

abnormal amacrine cell morphology ( J:202884 )

• the starburst amacrine cell (SAC) processes that normally stratify in 2 discrete inner plexiform laminae (S2 and S4) fail to completely segregate from each other

• disruption of the dendritic plexus organization of On but not Off SACs

abnormal retina inner plexiform layer morphology ( J:202884 )

• the starburst amacrine cell (SAC) processes that normally stratify in 2 discrete inner plexiform laminae (S2 and S4) fail to completely segregate from each other

nervous system

abnormal dendrite morphology ( J:202884 )

• the starburst amacrine cell (SAC) processes that normally stratify in 2 discrete inner plexiform laminae (S2 and S4) fail to completely segregate from each other

• disruption of the dendritic plexus organization of On but not Off SACs

abnormal amacrine cell morphology ( J:202884 )

• the starburst amacrine cell (SAC) processes that normally stratify in 2 discrete inner plexiform laminae (S2 and S4) fail to completely segregate from each other

• disruption of the dendritic plexus organization of On but not Off SACs

Genotype
MGI:5484737

cn16

• Allelic Composition: Mc4r^tm2Lowl/Mc4r^tm2Lowl; Chat^tm1(cre)Lowl/Chat⁺; Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr

nervous system

nervous system phenotype ( J:193452 )

N • biophysical properties of cholinergic neurons are normal

abnormal nervous system electrophysiology ( J:193452 )

• melanotan II fails to hyperpolarize membrane potentials of all dorsal motor nucleus vagal cholinergic neurons

• similar results with Mc4r agonist THIQ

Genotype
MGI:5882505

cn17

• Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺; Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu
• Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6NJ * SJL/J

respiratory system

abnormal whole-body plethysmography ( J:237513 )

• whole-body plethysmography revealed respiratory defects similar to those observed in Cpeb2^tm1.2Yshu homozygotes but with wide individual variation in severity

• however, tidal volume is normal at P1

abnormal breathing pattern ( J:237513 )

• aberrant respiration patterns at P1

decreased pulmonary respiratory rate ( J:237513 )

• reduced respiratory frequency at P1

apnea ( J:237513 )

• increased apneic episodes at P1

• inhalation of nebulized tiotropium, an anticholinergic bronchodilator, reduces apnea frequency to wild-type levels

increased airway responsiveness ( J:237513 )

• significantly increased methacholine-induced airway reactivity in adult mice

homeostasis/metabolism

increased acetylcholine level ( J:237513 )

• increased pulmonary acetylcholine level at P1

increased brain choline acetyltransferase activity ( J:237513 )

• increased choline acetyltransferase (ChAT) expression in the dorsal motor nucleus of vagus (DMNV)

nervous system

increased brain choline acetyltransferase activity ( J:237513 )

• increased choline acetyltransferase (ChAT) expression in the dorsal motor nucleus of vagus (DMNV)