Phenotypes Associated with This Genotype

Genotype
MGI:5524136

• 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