About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5492109
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (24 available)
Tg(Prrx1-cre)1Cjt mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• weight is on average reduced by 25% (J:173779)
• weight is on average reduced by 25% (J:173779)

limbs/digits/tail
• short-limbed dwarfism, with mutants showing a reduction in entire limb size (J:173779)
• short-limbed dwarfism, with mutants showing a reduction in entire limb size (J:173779)

muscle
• mutants exhibit muscle dystrophy (J:173779)
• large areas of dystrophic musculature are occupied by fat tissue (J:173779)
• muscle connective tissue shows increased proliferation at E14.5 and an increase in connective tissue in muscles is already seen at E16.5 (J:173779)
• muscle fibers are thinned out at E16.5 (J:173779)
• mutants exhibit muscle dystrophy (J:173779)
• large areas of dystrophic musculature are occupied by fat tissue (J:173779)
• muscle connective tissue shows increased proliferation at E14.5 and an increase in connective tissue in muscles is already seen at E16.5 (J:173779)
• muscle fibers are thinned out at E16.5 (J:173779)
• marker analysis indicates a defect in muscle formation at E13.5, with specific muscle primordial reduced in size or entirely missing; approximate 30% reduction in the m. triceps size and about 50% reduction in the m. gluteus maximus size of E13.5 embryos (J:173779)
• the m. latissimus dorsi appears smaller and shows rarefaction of muscle fibers (J:173779)
• distal muscle groups in the extremities are most affected, with some muscles completely missing, indicating that the muscle differentiation process is disturbed (J:173779)
• marker analysis indicates a defect in muscle formation at E13.5, with specific muscle primordial reduced in size or entirely missing; approximate 30% reduction in the m. triceps size and about 50% reduction in the m. gluteus maximus size of E13.5 embryos (J:173779)
• the m. latissimus dorsi appears smaller and shows rarefaction of muscle fibers (J:173779)
• distal muscle groups in the extremities are most affected, with some muscles completely missing, indicating that the muscle differentiation process is disturbed (J:173779)
• defect in myogenesis affecting the terminal differentiation of myoblasts between E12.5 and E14.5 (J:173779)
• defect in myogenesis affecting the terminal differentiation of myoblasts between E12.5 and E14.5 (J:173779)
• maker analysis indicates a severe disruption of myoblast terminal differentiation (J:173779)
• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen (J:173779)
• maker analysis indicates a severe disruption of myoblast terminal differentiation (J:173779)
• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen (J:173779)
• muscles show a 20% increase in the number of fibers with cleft-like invaginations (split fibers) (J:173779)
• muscle fiber size appears more variable than in controls, however no overt muscle regeneration is seen (J:173779)
• muscles show a 20% increase in the number of fibers with cleft-like invaginations (split fibers) (J:173779)
• muscle fiber size appears more variable than in controls, however no overt muscle regeneration is seen (J:173779)
• total number of muscle fibers is reduced by 50% in the triceps (J:173779)
• total number of muscle fibers is reduced by 50% in the triceps (J:173779)
• weight of triceps muscle is reduced by more than 50% (J:173779)
• weight of triceps muscle is reduced by more than 50% (J:173779)
• reduction in muscle size and mass (J:173779)
• reduction in muscle size and mass (J:173779)
• generalized muscle fibrosis, characterized by expansion of collagen-rich connective tissue, and reduction in total number of muscle fibers (J:173779)
• generalized muscle fibrosis, characterized by expansion of collagen-rich connective tissue, and reduction in total number of muscle fibers (J:173779)
• in the force gauge pull test, mice show a dramatic reduction in muscle force (J:173779)
• satellite cells exhibit normal self-renewal but impaired differentiation as indicated by diminished myotube formatio (J:173779)
• in the force gauge pull test, mice show a dramatic reduction in muscle force (J:173779)
• satellite cells exhibit normal self-renewal but impaired differentiation as indicated by diminished myotube formatio (J:173779)

cellular
• maker analysis indicates a severe disruption of myoblast terminal differentiation (J:173779)
• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen (J:173779)
• maker analysis indicates a severe disruption of myoblast terminal differentiation (J:173779)
• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen (J:173779)

Mouse Models of Human Disease
OMIM ID Ref(s)
Neurofibromatosis, Type I; NF1 162200 J:173779


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory