Phenotypes associated with this allele

• Allele Symbol: Cacna1c^tm2Itl
• Allele Name: targeted mutation 2, inGenious Targeting Laboratory
• Allele ID: MGI:5296904
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna1c^tm2Itl/Cacna1c^tm2Itl	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	MGI:5499557
ht2	Cacna1c^tm2Itl/Cacna1c^+	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	MGI:5296910
ht3	Cacna1c^tm2Itl/Cacna1c^+	involves: 129S6/SvEvTac * C57BL/6NTac	MGI:5529109

Genotype
MGI:5499557

hm1

• Allelic Composition: Cacna1c^tm2Itl/Cacna1c^tm2Itl
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac

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

mortality/aging

postnatal lethality, complete penetrance ( J:176442 )

Genotype
MGI:5296910

ht2

• Allelic Composition: Cacna1c^tm2Itl/Cacna1c⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac

mortality/aging

postnatal lethality, complete penetrance ( J:176442 )

behavior/neurological

behavior/neurological phenotype ( J:176442 )

N • mice exhibit normal behavior in a light/dark box test and elevated zero maze

N • mice exhibit normal spatial reference memory acquisition and retrieval in a Morris water maze

enhanced contextual conditioning behavior ( J:176442 )

• mice exhibit increased persistence of contextual fear memory compared with wild-type mice

enhanced cued conditioning behavior ( J:176442 )

• mice exhibit increased persistence of tone-cued fear memory compared with wild-type mice

decreased exploration in new environment ( J:176442 )

• mice spent a smaller fraction of time moving, fewer ambulatory movements, and smaller distance traveled in a novel environment compared with wild-type mice

• mice exhibit decreased approach behavior in a novel environment compared with wild-type mice

• however, mice do not exhibit thigmotaxis

increased stereotypic behavior ( J:176442 )

• mice exhibit repetitive and preservative behaviors in marble burying, Morris water maze (during reversal training), and water Y-maze compared with wild-type mice

abnormal social investigation ( J:176442 )

• in a social home-cage assay, mice exhibit reduced social preference compared with wild-type mice

decreased vocalization ( J:176442 )

• at P6, P8, and P10, mice exhibit shorter duration of ultrasonic vocalization compared with wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Timothy syndrome		DOID:0060173	OMIM:601005	J:176442

Genotype
MGI:5529109

ht3

• Allelic Composition: Cacna1c^tm2Itl/Cacna1c⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

behavior/neurological

excessive scratching ( J:201506 )

• scratching often results in destruction of whiskers

• mice tend to scratch along one side of body and toward face

immune system

dermatitis ( J:201506 )

• progression is rapid and covers a large area that tends to be on one side as compared to control littermates

integument

dermatitis ( J:201506 )

• progression is rapid and covers a large area that tends to be on one side as compared to control littermates

mortality/aging

premature death ( J:201506 )

• main cause of death is severe dermatitis

nervous system

abnormal brain morphology ( J:201506 )

• brains are slightly asymmetric as compared to littermates

• angles between midline and cerebellum significantly differ from control littermates

enlarged lateral ventricles ( J:201506 )

• total cross sectional area of lateral ventricles is increased as compared to controls

• circumference of the perimeter does not differ from controls