Phenotypes Associated with This Genotype

Genotype
MGI:4838323

• Allelic Composition: Ttn^tm1.1Isrd/Ttn⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

limbs/digits/tail

abnormal limb muscle morphology ( J:165576 )

• dystrophic features arising from 9 months of age in Biceps Femoris

abnormal quadriceps morphology ( J:165576 )

• dystrophic features arising from 9 months of age

abnormal tibialis anterior morphology ( J:165576 )

• dystrophic features arising from 9 months of age

mortality/aging

prenatal lethality, incomplete penetrance ( J:165576 )

embryonic lethality during organogenesis, incomplete penetrance ( J:165576 )

• significant deviation from Mendelian rations at birth, prenatal loss affects half the heterozygous animals, however at E12 embryo ratios exist at a Mendelain ratio, with the presence of necrotic embryos

muscle

abnormal limb muscle morphology ( J:165576 )

• dystrophic features arising from 9 months of age in Biceps Femoris

abnormal quadriceps morphology ( J:165576 )

• dystrophic features arising from 9 months of age

abnormal tibialis anterior morphology ( J:165576 )

• dystrophic features arising from 9 months of age

dystrophic muscle ( J:165576 )

• dystrophic features in three specific muscles, tibialis anterior, Biceps Femoris and Quadriceps

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tibial muscular dystrophy		DOID:0111078	OMIM:600334	J:165576