Phenotypes associated with this allele

• Allele Symbol: Fat1^{Gt(KST249)Byg}
• Allele Name: gene trap KST249, BayGenomics
• Allele ID: MGI:4124012
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Fat1^Gt(KST249)Byg/Fat1^Gt(KST249)Byg Tg(Myl1-lacZ)1Ibdml/0	involves: 129P2/OlaHsd	MGI:5524134

Genotype
MGI:5524134

cx1

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

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

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

decreased skeletal muscle fiber diameter ( J:199157 )

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

skeletal muscle fiber necrosis ( J:199157 )

• at advanced stages

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

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