Phenotypes associated with this allele

• Allele Symbol: Dmpk⁺
• Allele Name: wild type
• Allele ID: MGI:2430416
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Dmpk^tm2Bew/Dmpk^+	involves: 129P2/OlaHsd * C3H * C57BL/6	MGI:3690768
ht2	Dmpk^tm1Rdd/Dmpk^+	involves: 129S2/SvPas * C57BL/6J	MGI:3613741

Genotype
MGI:3690768

ht1

• Allelic Composition: Dmpk^tm2Bew/Dmpk⁺
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:113264 )

• viable and fertile with no overt abnormalities but the number of repeats may become unstable, with one lineage showing slow but progressive increments in repeat size over successive generations

• somatic repeat expansion is also greater in mice with more than 50% C3H in their strain background

Genotype
MGI:3613741

ht2

• Allelic Composition: Dmpk^tm1Rdd/Dmpk⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

muscle

abnormal sarcomere morphology ( J:53077 )

• ultrastructurally, occasional skeletal muscle fibers display sarcomeric disorganization

decreased skeletal muscle fiber diameter ( J:33714 )

• adult (7-11-month-old) heterozygotes display small diameter muscle fibers relative to wild-type mice

impaired skeletal muscle contractility ( J:33714 )

• adult (7-11-month-old) heterozygotes exhibit a variable reduction in tetanic force generation relative to wild-type mice

enhanced skeletal muscle regeneration ( J:33714 )

• adult (7-11-month-old) heterozygotes show increased skeletal muscle regenerative activity, as indicated by small increases in MyoD levels

myopathy ( J:33714 )

• adult (7-11-month-old) heterozygotes display only a subtle, variable myopathy relative to age-matched homozygotes

• notably, heterozygous pups exhibit no overt symptoms of congenital myotonic dystrophy, including muscle hypotonia

• in addition, heterozygotes do not exhibit myotonia, which is a hallmark of the human disease

cardiovascular system

heart block ( J:53077 )

• adult heterozygotes exhibit a cardiac conduction defect (first-degree heart block), in the presence of normal intrinsic sinus node function

atrioventricular block ( J:53077 )

• similar to homozygotes, all adult heterozygotes display first-degree A-V block

• however, unlike homozygotes, adult heterozygotes display no higher-grade atrioventricular block

prolonged PR interval ( J:53077 )

• prolonged mean P-R interval of 48 8 ms vs 34 5 in wild-type mice, but a normal P-wave duration and QRS interval

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myotonic dystrophy type 1		DOID:11722	OMIM:160900	J:53077