Phenotypes associated with this allele

• Allele Symbol: Clcn1^adr
• Allele Name: arrested development of righting response
• Allele ID: MGI:1856316
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clcn1^adr/Clcn1^adr	A2G-Clcn1^adr	MGI:4835907

Genotype
MGI:4835907

hm1

• Allelic Composition: Clcn1^adr/Clcn1^adr
• Genetic Background: A2G-Clcn1^adr

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

mortality/aging

premature death ( J:4480 )

• lifespan is 7 to 12 weeks of age

muscle

abnormal skeletal muscle morphology ( J:25829 )

• enzymatic dissociation analysis of muscles from mice between 15 and 120 days of age show a 3 to 5 fold higher yield of mononucleated cells per muscle fresh weight

• light microscopy confirmed the presence of increased numbers of mononucleated cells per muscle volume

• at the ultrastructural level in mutant mice there are 3.3 times as many myogenic stem cells per myofiber nucleus as found in control mice

abnormal muscle physiology ( J:4480 , J:25830 )

• confined to Type II muscle fibers which fail to undergo a normal increase in activity of several enzymes including succinate dehydrogenase, AMP deaminase, and 1,6-biphosphate aldolase (J:4480)

• mice display skeletal muscle after-contractions (J:25830)

impaired skeletal muscle contractility ( J:25830 )

abnormal muscle electrophysiology ( J:25830 )

• direct muscle stimulation produced runs of action potentials of 1-5 second durations, with declining amplitudes and varying frequencies supressable by tocainide

• electrical after activity coincided with muscle fiber after-contractions supressable by tocainide

• in chloride free medium membrane time constants for muscle conductance were 4 times prolonged in wild-type mice compared with 1.4 times longer in mutant mice

impaired muscle relaxation ( J:25830 )

• characterized as a myotonia based on continued electrical activity after stimulation

muscle twitch ( J:7524 )

• isometric muscle twitches in mutant mice had only slightly prolonged contraction and half-relaxation times compared with control mice but long lasting after contractions following repeated direct stimulation

behavior/neurological

impaired righting response ( J:4480 , J:25830 )

• evident as early as 9 days of age (J:4480)

abnormal limb posture ( J:4480 )

• hindlimbs become stiff

growth/size/body

postnatal growth retardation ( J:4480 )

• from 4 weeks of age

reproductive system

reduced female fertility ( J:4480 )

♀ • litters are small

male infertility ( J:4480 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myotonia congenita		DOID:2106		J:18371