Phenotypes Associated with This Genotype

Genotype
MGI:5828132

• Allelic Composition: Chst14^tm1Lex/Chst14^tm1Lex
• Genetic Background: B6;129S5-Chst14^tm1Lex/Mmucd

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:328985 )

• reduction in birth rate

growth/size/body

decreased body length ( J:171883 )

• decreased mean body length when compared with controls

postnatal growth retardation ( J:328985 )

• delayed growth during earl life, with reduced weight from weaning to 14 weeks of age

behavior/neurological

decreased anxiety-related response ( J:171883 )

♂ • male homozygous mutants exhibited a decreased anxiety-like response during stress-induced hyperthermia testing

decreased grip strength ( J:328985 )

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

decreased aerobic running capacity ( J:328985 )

• mice exhibit lower maximum running speed

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:328985 )

N • no difference in serum creatine kinase levels are seen

decreased aerobic running capacity ( J:328985 )

• mice exhibit lower maximum running speed

abnormal urine glycosaminoglycan level ( J:328985 )

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

nervous system

enhanced sensorimotor gating ( J:171883 )

• homozygous mutant mice also exhibited enhanced sensorimotor gating/attention at 3 of 4 prepulse intensities

muscle

abnormal muscle morphology ( J:328985 )

• decorin is upregulated in the perimysium around packages of muscle fibers and is augmented around individual muscle fibers in the endomysium

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

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 anddermatan sulfate disaccharides are undetectable 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

• 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