Phenotypes associated with this allele

• Allele Symbol: Fgf6^tm1Thbr
• Allele Name: targeted mutation 1, Thomas Braun
• Allele ID: MGI:1927559
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgf6^tm1Thbr/Fgf6^tm1Thbr	either: (involves: 129S4/SvJae-Fgf6^tm1Thbr) or (involves: 129S4/SvJae * C57BL/6)	MGI:2175023
cx2	Fgf6^tm1Thbr/Fgf6^tm1Thbr Myod1^tm1Jae/Myod1^tm1Jae	either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6)	MGI:3722601
cx3	Fgf5^tm1Tzi/Fgf5^tm1Tzi Fgf6^tm1Thbr/Fgf6^tm1Thbr Fgf7^tm1Efu/Fgf7^tm1Efu	involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJae * 129X1/SvJ	MGI:3717582
cx4	Fgf2^tm1Zllr/Fgf2^tm1Zllr Fgf6^tm1Thbr/Fgf6^tm1Thbr	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:3716191
cx5	Dmd^mdx/? Fgf2^tm1Zllr/Fgf2^tm1Zllr Fgf6^tm1Thbr/Fgf6^tm1Thbr	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * C57BL/10ScSn	MGI:3716189
cx6	Fgf5^tm1Tzi/Fgf5^tm1Tzi Fgf6^tm1Thbr/Fgf6^tm1Thbr	involves: 129S2/SvPas * 129S4/SvJae	MGI:3717581
cx7	Dmd^mdx/? Fgf6^tm1Thbr/Fgf6^tm1Thbr	involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn	MGI:3716195

Genotype
MGI:2175023

hm1

• Allelic Composition: Fgf6^tm1Thbr/Fgf6^tm1Thbr
• Genetic Background: either: (involves: 129S4/SvJae-Fgf6^tm1Thbr) or (involves: 129S4/SvJae * C57BL/6)

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

craniofacial

craniofacial phenotype ( J:42574 )

N • maxilla and mandible normal

short snout ( J:42574 )

muscle

increased satellite cell number ( J:42574 )

• slight increase

impaired skeletal muscle regeneration ( J:42574 )

• defective regeneration of skeletal muscle after crush-injury

• apparent 4 days after injury and strikingly abnormal after 10-14 days when controls have completely recovered

• mononuclear cells and remnants of degenerating myotubules persist after 2 weeks

• collagen deposits, evidence of fibrosis at 2 weeks and persisting to 3 weeks after injury

cellular

abnormal cell migration ( J:85088 )

• myogenic cells from mutants show impaired migration both distally and proximally to the injury site from the injection site when transplanted into wild-type mice (in which the tibialis anterior muscle had been injured and was undergoing regeneration)

growth/size/body

short snout ( J:42574 )

Genotype
MGI:3722601

cx2

• Allelic Composition: Fgf6^tm1Thbr/Fgf6^tm1Thbr; Myod1^tm1Jae/Myod1^tm1Jae
• Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6)

reproductive system

decreased litter size ( J:42574 )

Genotype
MGI:3717582

cx3

• Allelic Composition: Fgf5^tm1Tzi/Fgf5^tm1Tzi; Fgf6^tm1Thbr/Fgf6^tm1Thbr; Fgf7^tm1Efu/Fgf7^tm1Efu
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJae * 129X1/SvJ

integument

long hair ( J:85088 )

• hair length is increased compared to Fgf5^tm1Tzi homozygotes

Genotype
MGI:3716191

cx4

• Allelic Composition: Fgf2^tm1Zllr/Fgf2^tm1Zllr; Fgf6^tm1Thbr/Fgf6^tm1Thbr
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

muscle

muscle phenotype ( J:85088 )

N • mice do not show any changes in the musculature compared to double and triple mutants carrying the Dmd^mdx allele; no dystrophic muscle fibers are detected

abnormal myoblast migration ( J:85088 )

• basal level of migration of mutant myoblasts in culture is reduced by ~one-third relative to wild-type; migratory response to stimulation by Fgf2 and Fgf6 is significantly increased but does not reach level of stimulated wild-type myoblasts

cellular

abnormal myoblast migration ( J:85088 )

• basal level of migration of mutant myoblasts in culture is reduced by ~one-third relative to wild-type; migratory response to stimulation by Fgf2 and Fgf6 is significantly increased but does not reach level of stimulated wild-type myoblasts

Genotype
MGI:3716189

cx5

• Allelic Composition: Dmd^mdx/?; Fgf2^tm1Zllr/Fgf2^tm1Zllr; Fgf6^tm1Thbr/Fgf6^tm1Thbr
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * C57BL/10ScSn

muscle

muscle phenotype ( J:85088 )

N • growth and differentiation kinetics of myogenic cells are comparable to wild-type

abnormal skeletal muscle morphology ( J:85088 )

• pale areas in muscle contain extensive connective tissue

abnormal skeletal muscle fiber morphology ( J:85088 )

• when mice are injected with the diazo dye EBD, dye is taken up by damaged muscle fibers to varying degrees, but preferentially into the hindlimb; uptake occurs because of focal breakdown of plasmalemma which is an early event in necrosis

• some muscles are stained entirely indicating massive damage to the muscle fibers of the diaphragm and gluteus maximus whereas muscles in wild-type mice do not take up dye

increased variability of skeletal muscle fiber size ( J:85088 )

• in pale areas of muscles, remaining myotubes show large variation in caliber size

skeletal muscle fiber necrosis ( J:85088 )

• numerous necrotic fibers are present

decreased satellite cell number ( J:85088 )

• myotubes have slightly reduced percentage of satellite cells with respect to myotube nuclei in wild-type (3.05% vs 3.56%)

dystrophic muscle ( J:85088 )

• severe abnormalities are observed

abnormal muscle physiology ( J:85088 )

• mutants display palpable stiffness of the musculature, most evident in pelvic and shoulder girdle, at up to 6 months of age

skeleton

abnormal spine curvature ( J:85088 )

• up to 6 months of age, mice do not show clinical signs of severe dystrophy except for dorsal-ventral curvature of the spine

Genotype
MGI:3717581

cx6

• Allelic Composition: Fgf5^tm1Tzi/Fgf5^tm1Tzi; Fgf6^tm1Thbr/Fgf6^tm1Thbr
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJae

integument

long hair ( J:85088 )

• hair length is increased compared to Fgf5^tm1Tzi homozygotes

Genotype
MGI:3716195

cx7

• Allelic Composition: Dmd^mdx/?; Fgf6^tm1Thbr/Fgf6^tm1Thbr
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn

skeleton

abnormal spine curvature ( J:42574 )

• dorso-ventral curvature of the spine

muscle

muscle phenotype ( J:42574 )

N • no clinical signs of severe dystrophy for up to 6 months

abnormal epaxial muscle morphology ( J:42574 )

• back and body wall musculature show changes similar to diaphragm but less uniformly and more focally distributed

abnormal hypaxial muscle morphology ( J:42574 )

• muscle changes similar to diaphragm but less uniformly and more focally distributed

abnormal diaphragm morphology ( J:42574 )

• pronounced increase in collagen

• increase in mononuclear cells

• unusually small myotubes with very few centrally located nuclei

dystrophic muscle ( J:85088 )

• changes are not enhanced compared to Dmd mutants

myopathy ( J:42574 )

• severe myopathy observed in diaphragm, limb muscles, and back muscles