Phenotypes associated with this allele

• Allele Symbol: Tg(Myl1-lacZ)1Ibdml
• Allele Name: transgene insertion 1, Developmental Biology Institue of Marseilles-Luminy
• Allele ID: MGI:5449224
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fat1^tm1Fhel/Fat1^tm1Fhel Pax3^tm1(cre)Joe/Pax3^+ Tg(Myl1-lacZ)1Ibdml/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5524136
cx2	Fat1^Gt(KST249)Byg/Fat1^Gt(KST249)Byg Tg(Myl1-lacZ)1Ibdml/0	involves: 129P2/OlaHsd	MGI:5524134
cx3	Fat1^tm1.2Fhel/Fat1^tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0	involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL	MGI:5524138
cx4	Fat1^tm1Fhel/Fat1^tm1Fhel Tg(Myl1-lacZ)1Ibdml/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5524135

Genotype
MGI:5524136

cn1

• Allelic Composition: Fat1^tm1Fhel/Fat1^tm1Fhel; Pax3^tm1(cre)Joe/Pax3⁺; Tg(Myl1-lacZ)1Ibdml/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

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

Scapulohumeral muscle shape abnormalities in Fat1^tm1Fhel/Fat1^tm1Fhel Pax3^tm1(cre)Joe/Pax3⁺ Tg(Myl1-lacZ)1Ibdml/0 embryos

muscle

abnormal muscle development ( J:199157 )

• increased dispersal of myocytes at E12.5 in the fore limbs with development of ectopic muscles more so than in Fat1^tm1Fhel homozygotes but not as severe as in Fat1^tm1.2Fhel homozygotes

abnormal skeletal muscle morphology ( J:199157 )

• reduced occipital frontalis muscle and zygomatics

• unilateral or asymmetrical misplaced muscle fibers between the trapezius cervicalis and the trapezius thoracis

• additional muscles in the scapulohumoral region as in Fat1^tm1.2Fhel homozygotes without insertion of its extremity between the spinodeltoid and the triceps brachii muscles

• reduced myofiber density in the cutaneous maximus and in the subcutaneous part of the spinotrapezoid muscle

ectopic skeletal muscle ( J:199157 )

• additional muscles in the scapulohumoral region as in Fat1^tm1.2Fhel homozygotes without insertion of its extremity between the spinodeltoid and the triceps brachii muscles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
facioscapulohumeral muscular dystrophy		DOID:11727		J:199157

Genotype
MGI:5524134

cx2

• Allelic Composition: Fat1^{Gt(KST249)Byg}/Fat1^{Gt(KST249)Byg}; Tg(Myl1-lacZ)1Ibdml/0
• Genetic Background: involves: 129P2/OlaHsd

Presymptomatic adult Fat1^{Gt(KST249)Byg}/Fat1^{Gt(KST249)Byg} Tg(Myl1-lacZ)1Ibdml/0 mice show selective defects in scapular muscles

mortality/aging

premature death ( J:199157 )

• some mice exhibit adult lethality due to kidney phenotype

• however, more than half of mice survive after 3 months

muscle

myositis ( J:199157 )

• in the trapezius, rhomboid, pectoralis major, cutaneous maximus and latissimus dorsee

abnormal muscle development ( J:199157 )

• migrating myoblasts in the cutaneous maximus fail to show preferential alignment of their nuclei into migratory chains

• myoblasts exhibit loss of long cytoplasmic protrusions extending from the leading edge and rounded nuclei unlike in wild-type cells

• increased dispersal of myocytes at E12.5 in the fore limbs with development of ectopic muscles

abnormal skeletal muscle morphology ( J:199157 )

• abnormal cutaneous maximus muscle at E12.5 with reduced size, ill-defined anterior limits and ectopic myoblast migration into areas traditionally devoid of muscle cells

• ectopic myoblasts or disoriented single myoblasts in the shoulder region (e.g. spinotrapezius muscle) at E12.5

• severe reduction in cutaneous maximus thickness in presymptomatic mice

• abnormal myofibre orientation in the cutaneous maximus and rhomboid muscles in presymptomatic mice

• ectopic muscles share tendon attachments sites with existing muscles in presymptomatic mice

skeletal muscle fiber necrosis ( J:199157 )

• at advanced stages

decreased skeletal muscle fiber diameter ( J:199157 )

• at early symptomatic stages in the cutaneous maximus, rhomboid and trapezius muscles

decreased skeletal muscle mass ( J:199157 )

• in mice with kidney phenotype

• reduced muscle mass of the rhomboid muscles

skeletal muscle atrophy ( J:199157 )

• mis-shaped muscles exhibit early regionalized muscle wasting unlike in wild-type mice

• muscle wasting in the shoulder girdle

ectopic skeletal muscle ( J:199157 )

vision/eye

abnormal retina vasculature morphology ( J:199157 )

• microvascular lesions in some mice

retina microaneurysm ( J:199157 )

• in some mice

aniridia ( J:199157 )

• in some mice

microphthalmia ( J:199157 )

• in some mice

retina detachment ( J:199157 )

• in some mice

renal/urinary system

kidney cyst ( J:199157 )

• formed of enlarged tubules in the cortical renal area

behavior/neurological

impaired coordination ( J:199157 )

• in presymptomatic mice

abnormal posture ( J:199157 )

• scapular winging in presymptomatic mice

• however, lumbar posture and hind limb function are normal

growth/size/body

weight loss ( J:199157 )

• severe in mice with kidney phenotype

kidney cyst ( J:199157 )

• formed of enlarged tubules in the cortical renal area

immune system

lymphangiectasis ( J:199157 )

• retina telangiectasia in some mice

myositis ( J:199157 )

• in the trapezius, rhomboid, pectoralis major, cutaneous maximus and latissimus dorsee

nervous system

abnormal neuromuscular synapse morphology ( J:199157 )

• fragmentation, denervation and atrophy

• however, primary innervation is normal

skeleton

skeleton phenotype ( J:199157 )

N • mice exhibit no skeletal abnormalities

kyphosis ( J:199157 )

cardiovascular system

abnormal retina vasculature morphology ( J:199157 )

• microvascular lesions in some mice

retina microaneurysm ( J:199157 )

• in some mice

cellular

skeletal muscle fiber necrosis ( J:199157 )

• at advanced stages

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
facioscapulohumeral muscular dystrophy		DOID:11727		J:199157

Genotype
MGI:5524138

cx3

• Allelic Composition: Fat1^tm1.2Fhel/Fat1^tm1.2Fhel; Tg(Myl1-lacZ)1Ibdml/0
• Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

Shapes of selective facial and scapulohumeral muscles are altered in Fat1^tm1.2Fhel/Fat1^tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 fetuses

mortality/aging

neonatal lethality, incomplete penetrance ( J:199157 )

• more than half of mice die at birth

• however, a small proportion of mice survive to adulthood

craniofacial

abnormal facial muscle morphology ( J:199157 )

• at E14.5, E15.5 and P0, facial muscles exhibit abnormalities in shape, myofibre orientation and density in several subcutaneous muscles in the facial skin compared with wild-type mice

growth/size/body

abnormal facial muscle morphology ( J:199157 )

• at E14.5, E15.5 and P0, facial muscles exhibit abnormalities in shape, myofibre orientation and density in several subcutaneous muscles in the facial skin compared with wild-type mice

muscle

myositis ( J:199157 )

• in the trapezius, rhomboid, pectoralis major, cutaneous maximus and latissimus dorsee

abnormal muscle development ( J:199157 )

• increased dispersal of myocytes at E12.5 in the fore limbs with development of ectopic muscles

abnormal skeletal muscle morphology ( J:199157 )

• abnormal shoulder belt muscles with reduced subcutaneous portion of the spinotrapezius

• large gap in the back at E14.5 due to delayed midline junction of cutaneous maximus and rhomboid muscles

• ectopic bridges between the acromiotrapezius and spinotrapezius muscle

• at E14.5, E15.5 and P0, facial muscles exhibit abnormalities in shape, myofibre orientation and density in several subcutaneous muscles in the facial skin compared with wild-type mice

• authors state that mice that survive into adulthood exhibit similar phenotype as Fat1^{Gt(KST249)Byg} homozygotes

• however, deeper muscles are normal

skeletal muscle fiber necrosis ( J:199157 )

• at advanced stages

abnormal facial muscle morphology ( J:199157 )

• at E14.5, E15.5 and P0, facial muscles exhibit abnormalities in shape, myofibre orientation and density in several subcutaneous muscles in the facial skin compared with wild-type mice

decreased skeletal muscle fiber diameter ( J:199157 )

• at presymptomatic stages in the cutaneous maximus, rhomboid and trapezius muscles

ectopic skeletal muscle ( J:199157 )

• in the shoulder area systematically attached between the spinodeltoid muscle and the triceps brachii muscles

hearing/vestibular/ear

short endolymphatic duct ( J:199157 )

• shortening of the endolymphatic duct and endolymphatic sac at E12.5 in some mice

behavior/neurological

abnormal behavior ( J:199157 )

• authors state that mice that survive into adulthood exhibit similar phenotype as Fat1^{Gt(KST249)Byg} homozygotes

nervous system

abnormal neuromuscular synapse morphology ( J:199157 )

• fragmentation, denervation and atrophy

• however, primary innervation is normal

immune system

myositis ( J:199157 )

• in the trapezius, rhomboid, pectoralis major, cutaneous maximus and latissimus dorsee

cellular

skeletal muscle fiber necrosis ( J:199157 )

• at advanced stages

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
facioscapulohumeral muscular dystrophy		DOID:11727		J:199157

Genotype
MGI:5524135

cx4

• Allelic Composition: Fat1^tm1Fhel/Fat1^tm1Fhel; Tg(Myl1-lacZ)1Ibdml/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

muscle

abnormal muscle development ( J:199157 )

• increased dispersal of myocytes at E12.5 in the fore limbs with development of ectopic muscles

abnormal skeletal muscle morphology ( J:199157 )

• reduced occipital frontalis muscle and zygomatics

• unilateral or asymmetrical misplaced muscle fibers between the trapezius cervicalis and the trapezius thoracis

ectopic skeletal muscle ( J:199157 )