Phenotypes Associated with This Genotype

Genotype
MGI:5524138

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

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

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

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

skeletal muscle fiber necrosis ( J:199157 )

• at advanced stages

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

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