Phenotypes associated with this allele

• Allele Symbol: Kcnd3^tm1Tfts
• Allele Name: targeted mutation 1, Ting-Fen Tsa
• Allele ID: MGI:8266521
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcnd3^tm1Tfts/Kcnd3^tm1Tfts	C57BL/6-Kcnd3^tm1Tfts	MGI:8266619
ht2	Kcnd3^tm1Tfts/Kcnd3^+	C57BL/6-Kcnd3^tm1Tfts	MGI:8266621

Genotype
MGI:8266619

hm1

• Allelic Composition: Kcnd3^tm1Tfts/Kcnd3^tm1Tfts
• Genetic Background: C57BL/6-Kcnd3^tm1Tfts

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

behavior/neurological

abnormal motor coordination/balance ( J:363793 )

• higher frequency of abnormal jumping behavior

ataxia ( J:363793 )

impaired coordination ( J:363793 )

• limb slippage and crawling behavior in balance beam test at age 4 months

impaired limb coordination ( J:363793 )

• reduced coordination between fore- and hindlimbs

abnormal gait ( J:363793 )

• irregular and unequal, with dissonance between fore- and hindlimbs

short stride length ( J:363793 )

increased vertical activity ( J:363793 )

♀ • in open field test at age 4 months

increased locomotor activity ( J:363793 )

• in open field test at age 4 months (males) and 8 and 12 months (females)

cellular

abnormal cell nucleus morphology ( J:363793 )

• degeneration and breakdown in Purkinje cells

dilated endoplasmic reticulum ( J:363793 )

• in Purkinje cells

abnormal Purkinje cell mitochondrial morphology ( J:363793 )

• degeneration (rounded shape and lacking inner membrane cristae)

abnormal vesicle-mediated transport ( J:363793 )

• retention of monomer in microsome membranes and significant failure to transport tetramer to plasma membrane in Purkinje cells

nervous system

abnormal Purkinje cell mitochondrial morphology ( J:363793 )

• degeneration (rounded shape and lacking inner membrane cristae)

Purkinje cell degeneration ( J:363793 )

abnormal cerebellar Golgi cell morphology ( J:363793 )

• degeneration (enlargement and loose structure) in Purkinje cells

Genotype
MGI:8266621

ht2

• Allelic Composition: Kcnd3^tm1Tfts/Kcnd3⁺
• Genetic Background: C57BL/6-Kcnd3^tm1Tfts

behavior/neurological

abnormal motor coordination/balance ( J:363793 )

• higher frequency of abnormal jumping behavior

ataxia ( J:363793 )

impaired coordination ( J:363793 )

• limb slippage and crawling behavior in balance beam test at age 8 months (females) and 12 months (males)

impaired limb coordination ( J:363793 )

• reduced coordination between fore- and hindlimbs

abnormal gait ( J:363793 )

• herringbone walking path at age 12 months

short stride length ( J:363793 )

• at age 12 months

decreased locomotor activity ( J:363793 )

• in open field test

cellular

abnormal Purkinje cell mitochondrial morphology ( J:363793 )

• degeneration (rounded shape)

abnormal vesicle-mediated transport ( J:363793 )

• retention of monomer in microsome membranes and significant failure to transport tetramer to plasma membrane in Purkinje cells

nervous system

abnormal Purkinje cell mitochondrial morphology ( J:363793 )

• degeneration (rounded shape)

Purkinje cell degeneration ( J:363793 )

abnormal cerebellar Golgi cell morphology ( J:363793 )

• degeneration (enlargement and loose structure) in Purkinje cells