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Phenotypes Associated with This Genotype
Genotype
MGI:5524138
Allelic
Composition
Fat1tm1.2Fhel/Fat1tm1.2Fhel
Tg(Myl1-lacZ)1Ibdml/0
Genetic
Background
involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat1tm1.2Fhel mutation (0 available); any Fat1 mutation (2 available)
Tg(Myl1-lacZ)1Ibdml mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Shapes of selective facial and scapulohumeral muscles are altered in Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 fetuses

mortality/aging
• more than half of mice die at birth
• however, a small proportion of mice survive to adulthood

craniofacial
• 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
• 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
• in the trapezius, rhomboid, pectoralis major, cutaneous maximus and latissimus dorsee
• increased dispersal of myocytes at E12.5 in the fore limbs with development of ectopic muscles
• 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 Fat1Gt(KST249)Byg homozygotes
• however, deeper muscles are normal
• 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
• at presymptomatic stages in the cutaneous maximus, rhomboid and trapezius muscles
• at advanced stages
• in the shoulder area systematically attached between the spinodeltoid muscle and the triceps brachii muscles

hearing/vestibular/ear
• shortening of the endolymphatic duct and endolymphatic sac at E12.5 in some mice

behavior/neurological
• authors state that mice that survive into adulthood exhibit similar phenotype as Fat1Gt(KST249)Byg homozygotes

nervous system
• fragmentation, denervation and atrophy
• however, primary innervation is normal

immune system
• 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 OMIM:158900
OMIM:158901
J:199157


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/16/2018
MGI 6.12
The Jackson Laboratory