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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fat1tm1Fhel
targeted mutation 1, Francoise Helmbacher
MGI:5524119
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Fat1tm1Fhel/Fat1tm1Fhel
Pax3tm1(cre)Joe/Pax3+
Tg(Myl1-lacZ)1Ibdml/0
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL MGI:5524136
cx2
Fat1tm1Fhel/Fat1tm1Fhel
Tg(Myl1-lacZ)1Ibdml/0
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL MGI:5524135


Genotype
MGI:5524136
cn1
Allelic
Composition
Fat1tm1Fhel/Fat1tm1Fhel
Pax3tm1(cre)Joe/Pax3+
Tg(Myl1-lacZ)1Ibdml/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat1tm1Fhel mutation (0 available); any Fat1 mutation (208 available)
Pax3tm1(cre)Joe mutation (1 available); any Pax3 mutation (50 available)
Tg(Myl1-lacZ)1Ibdml mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Scapulohumeral muscle shape abnormalities in Fat1tm1Fhel/Fat1tm1Fhel Pax3tm1(cre)Joe/Pax3+ Tg(Myl1-lacZ)1Ibdml/0 embryos

muscle
• increased dispersal of myocytes at E12.5 in the fore limbs with development of ectopic muscles more so than in Fat1tm1Fhel homozygotes but not as severe as in Fat1tm1.2Fhel homozygotes
• 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 Fat1tm1.2Fhel 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
• additional muscles in the scapulohumoral region as in Fat1tm1.2Fhel 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:5524135
cx2
Allelic
Composition
Fat1tm1Fhel/Fat1tm1Fhel
Tg(Myl1-lacZ)1Ibdml/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat1tm1Fhel mutation (0 available); any Fat1 mutation (208 available)
Tg(Myl1-lacZ)1Ibdml mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• increased dispersal of myocytes at E12.5 in the fore limbs with development of ectopic muscles
• reduced occipital frontalis muscle and zygomatics
• unilateral or asymmetrical misplaced muscle fibers between the trapezius cervicalis and the trapezius thoracis





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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory