All Phenotypes Utrn<tm1Ked> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Utrn^tm1Ked
targeted mutation 1, Kay E Davies
MGI:2148589

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Utrn^tm1Ked/Utrn^tm1Ked	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA	MGI:2176875
cx2	Dmd^mdx-3Cv/Dmd^mdx-3Cv Utrn^tm1Ked/Utrn^tm1Ked	involves: 129 * C3H/HeHa * C57BL * M. m. castaneus * M. m. musculus	MGI:3798662
cx3	Dmd^mdx-3Cv/Y Utrn^tm1Ked/Utrn^tm1Ked	involves: 129 * C3H/HeHa * C57BL * M. m. castaneus * M. m. musculus	MGI:3798665
cx4	Dmd^mdx/Dmd^mdx Utrn^tm1Ked/Utrn^tm1Ked	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA	MGI:2176879

Allelic Composition	Utrn^tm1Ked/Utrn^tm1Ked
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Utrn^tm1Ked mutation (7 available); any Utrn mutation (304 available)

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

nervous system

abnormal neuromuscular synapse morphology ( J:70949 )

• decrease in junctional folding at the postsynaptic membrane

• reduction in number of acetylcholine receptors in each junction

abnormal miniature endplate potential ( J:70949 )

• the amplitude of miniature endplate currents is reduced by 20% in the extensor digitorum longus muscle, however other features of neuromuscular transmission are normal

muscle

muscle phenotype ( J:70949 )

N	• no indication of muscle weakness or degeneration of cardiac or skeletal muscle

renal/urinary system

renal/urinary system phenotype ( J:70949 )

N	• normal kidney and function

respiratory system

respiratory system phenotype ( J:70949 )

N	• no signs of abnormal breathing and the lung appears normal

Allelic Composition	Dmd^mdx-3Cv/Dmd^mdx-3Cv Utrn^tm1Ked/Utrn^tm1Ked
Genetic Background	involves: 129 * C3H/HeHa * C57BL * M. m. castaneus * M. m. musculus

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmd^mdx-3Cv mutation (1 available); any Dmd mutation (154 available)
Utrn^tm1Ked mutation (7 available); any Utrn mutation (304 available)

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

muscle

abnormal skeletal muscle morphology ( J:116348 )

• authors state that mice develop the same skeletal muscle abnormalities as observed in Dmd^mdx Utrn^tm1Ked mice

nervous system

nervous system phenotype ( J:116348 )

N	• unlike in Dmd^mdx Utrn^tm1Ked mice, brain morphology is normal

respiratory system

respiratory system phenotype ( J:116348 )

N	• unlike in Dmd^mdx Utrn^tm1Ked mice, lung morphology is normal

liver/biliary system

liver/biliary system phenotype ( J:116348 )

N	• liver morphology is normal

renal/urinary system

renal/urinary system phenotype ( J:116348 )

N	• kidney morphology is normal

reproductive system

reproductive system phenotype ( J:116348 )

N	• ovary morphology is normal

Allelic Composition	Dmd^mdx-3Cv/Y Utrn^tm1Ked/Utrn^tm1Ked
Genetic Background	involves: 129 * C3H/HeHa * C57BL * M. m. castaneus * M. m. musculus

Find Mice

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

muscle

abnormal skeletal muscle morphology ( J:116348 )

• authors state that mice develop the same skeletal muscle abnormalities as observed in Dmd^mdx Utrn^tm1Ked mice

nervous system

nervous system phenotype ( J:116348 )

N	• unlike in Dmd^mdx Utrn^tm1Ked mice, brain morphology is normal

respiratory system

respiratory system phenotype ( J:116348 )

N	• unlike in Dmd^mdx Utrn^tm1Ked mice, lung morphology is normal

liver/biliary system

liver/biliary system phenotype ( J:116348 )

N	• liver morphology is normal

renal/urinary system

renal/urinary system phenotype ( J:116348 )

N	• kidney morphology is normal

reproductive system

reproductive system phenotype ( J:116348 )

N	• testis morphology is normal

Allelic Composition	Dmd^mdx/Dmd^mdx Utrn^tm1Ked/Utrn^tm1Ked
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmd^mdx mutation (31 available); any Dmd mutation (154 available)
Utrn^tm1Ked mutation (7 available); any Utrn mutation (304 available)

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

mortality/aging

premature death ( J:42388 )

• all succumb to premature death by 20 weeks of age

behavior/neurological

abnormal posture ( J:42388 )

• slack posture by 4 to 6 weeks of age

abnormal gait ( J:42388 )

• waddling gait

decreased locomotor activity ( J:42388 )

• decrease in mobility and abnormal field behavior by 4 to 6 weeks of age

growth/size/body

weight loss ( J:42388 )

muscle

abnormal skeletal muscle fiber morphology ( J:42388 )

• muscle fibers are irregularly shaped and sized, many with centralized nuclei and some lymphocyte infiltration

• some fibers contain fat or appear to be replaced by adipose cells

abnormal skeletal muscle fiber size ( J:42388 )

centrally nucleated skeletal muscle fibers ( J:42388 )

skeletal muscle interstitial fibrosis ( J:42388 )

skeletal muscle necrosis ( J:42388 )

dystrophic muscle ( J:42388 )

• muscular dystrophy begins at 6 days of age and becomes severe by 10 weeks of age, earlier than in single Dmd mutants

progressive muscle weakness ( J:42388 )

respiratory system

abnormal breathing pattern ( J:42388 )

• exhibit abnormal breathing by 4 to 6 weeks of age

skeleton

kyphosis ( J:42388 )

nervous system

abnormal neuromuscular synapse morphology ( J:42388 )

• postsynaptic endplate regions exhibit a virtual absence of junctional folding at the postsynaptic membrane

• about 40% decrease in acetylcholine receptors at the synapse

limbs/digits/tail

abnormal hindlimb morphology ( J:42388 )

• abnormally postured hindlimbs with joint contractures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duchenne muscular dystrophy		DOID:11723	OMIM:310200	J:42388

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