Phenotypes associated with this allele

• Allele Symbol: Chst14^em2Taok
• Allele Name: endonuclease-mediated mutation 2, Takashi Okada
• Allele ID: MGI:8345267
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chst14^em2Taok/Chst14^em2Taok	involves: C3H/He * C57BL/6J	MGI:8352306

Genotype
MGI:8352306

hm1

• Allelic Composition: Chst14^em2Taok/Chst14^em2Taok
• Genetic Background: involves: C3H/He * C57BL/6J

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

behavior/neurological

decreased grip strength ( J:328985 )

• mice show lower grip strength and a reduction in body weight-normalized grip strength at 2 months of age

decreased aerobic running capacity ( J:328985 )

• maximum running speed of 2- to 12-month-old mice is lower than in controls

• daily running distance of 5-month-old and 1-year-old mice is lower than in controls

homeostasis/metabolism

decreased aerobic running capacity ( J:328985 )

• maximum running speed of 2- to 12-month-old mice is lower than in controls

• daily running distance of 5-month-old and 1-year-old mice is lower than in controls

abnormal urine glycosaminoglycan level ( J:328985 )

• mice show increased chondroitin sulfate disaccharides and undetectable levels of anddermatan sulfate disaccharides in urine of 5-6-week old mice indicating a deficiency of dermatan sulfate biosynthesis

integument

abnormal dermal layer morphology ( J:328985 )

• the structures of the collagen fiber bundles in the reticular dermis are finer and the boundary between adjacent collagen bundles is unclear

decreased skin tensile strength ( J:328985 )

• dermal skin shows weaker tensile stress and lower tensile strain, indicating greater fragility

muscle

abnormal skeletal muscle fiber morphology ( J:328985 )

• tibialis anterior muscle shows spreading of the muscle interstitium (spread muscle fiber stroma) and nucleic accumulation

decreased skeletal muscle fiber diameter ( J:328985 )

• tibialis anterior muscle shows an increased frequency of smaller-diameter fibers

abnormal skeletal muscle fiber type ratio ( J:328985 )

• muscle fibers in tibialis anterior muscle shows a larger number of MHC type I-positive fibers (slow muscle)

decreased skeletal muscle mass ( J:328985 )

• muscle mass in the forelimb skeletal muscle is lower than in controls

renal/urinary system

abnormal urine glycosaminoglycan level ( J:328985 )

• mice show increased chondroitin sulfate disaccharides and undetectable levels of anddermatan sulfate disaccharides in urine of 5-6-week old mice indicating a deficiency of dermatan sulfate biosynthesis

skeleton

kyphosis ( J:328985 )

• thoracic kyphosis is seen over time; mice show lower thoracic angles than controls and a large decrease in the kyphotic index

• however, digital contractures of the forefoot fingers are not seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ehlers-Danlos syndrome musculocontractural type 1		DOID:0080736	OMIM:601776	J:328985