Biomaterial Database

A new mutant of Japanese quail (Coturnix coturnix japonica) characterized by generalized glycogenosis. 1983

T Nunoya, and M Tajima, and M Mizutani

A flock of Japanese quail with generalized glycogenosis has been established. Affected quail showed difficulty in raising their wings. Excessive accumulation of glycogen was seen in the liver, heart, skeletal muscle and brain, apparently due to decreased acid maltase activity. The condition appeared between 2 and 12 weeks of age and tissue deposition of glycogen increased with age. The growth of affected quail was normal and there were no deaths from the condition. Although genetic analysis has not yet been completed, an autosomal recessive inheritance is suspected.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D011784	Quail	Common name for two distinct groups of BIRDS in the order GALLIFORMES: the New World or American quails of the family Odontophoridae and the Old World quails in the genus COTURNIX, family Phasianidae.	Quails
D003370	Coturnix	A genus of BIRDS in the family Phasianidae, order GALLIFORMES, containing the common European and other Old World QUAIL.	Japanese Quail,Coturnix japonica,Japanese Quails,Quail, Japanese,Quails, Japanese
D005260	Female		Females
D006008	Glycogen Storage Disease	A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.	Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
D006009	Glycogen Storage Disease Type II	An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)	Acid Maltase Deficiency Disease,Generalized Glycogenosis,Glycogenosis 2,Lysosomal alpha-1,4-Glucosidase Deficiency Disease,Pompe Disease,Acid Alpha-Glucosidase Deficiency,Acid Maltase Deficiency,Adult Glycogen Storage Disease Type II,Alpha-1,4-Glucosidase Deficiency,Deficiency Disease, Acid Maltase,Deficiency Disease, Lysosomal alpha-1,4-Glucosidase,Deficiency of Alpha-Glucosidase,GAA Deficiency,GSD II,GSD2,Glycogen Storage Disease II,Glycogen Storage Disease Type 2,Glycogen Storage Disease Type II, Adult,Glycogen Storage Disease Type II, Infantile,Glycogen Storage Disease Type II, Juvenile,Glycogenosis Type II,Infantile Glycogen Storage Disease Type II,Juvenile Glycogen Storage Disease Type II,Pompe's Disease,Acid Alpha Glucosidase Deficiency,Acid Alpha-Glucosidase Deficiencies,Acid Maltase Deficiencies,Alpha 1,4 Glucosidase Deficiency,Alpha-1,4-Glucosidase Deficiencies,Alpha-Glucosidase Deficiencies,Alpha-Glucosidase Deficiencies, Acid,Alpha-Glucosidase Deficiency,Alpha-Glucosidase Deficiency, Acid,Deficiencies, Acid Alpha-Glucosidase,Deficiencies, Acid Maltase,Deficiencies, Alpha-1,4-Glucosidase,Deficiencies, GAA,Deficiency of Alpha Glucosidase,Deficiency, Acid Alpha-Glucosidase,Deficiency, Acid Maltase,Deficiency, Alpha-1,4-Glucosidase,Deficiency, GAA,Disease, Pompe,Disease, Pompe's,GAA Deficiencies,GSD2s,Generalized Glycogenoses,Glycogenoses, Generalized,Glycogenosis, Generalized,Lysosomal alpha 1,4 Glucosidase Deficiency Disease,Maltase Deficiencies, Acid,Pompes Disease,Type II, Glycogenosis,Type IIs, Glycogenosis
D000367	Age Factors	Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.	Age Reporting,Age Factor,Factor, Age,Factors, Age
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D012737	Sex Factors	Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.	Factor, Sex,Factors, Sex,Sex Factor