Phenotypes Associated with This Genotype

Genotype
MGI:2667791

• Allelic Composition: Mgat2^tm1.1Jxm/Mgat2^tm1.1Jxm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:80661 )

• lethality within the first week, incomplete penetrance

• most mice that survived the first week of life lived to adulthood

prenatal lethality, incomplete penetrance ( J:80661 )

behavior/neurological

abnormal motor coordination/balance ( J:80661 )

• unable to swim and showed poor performance on the rotarod

decreased grip strength ( J:80661 )

• 80% reduction in grip strength

abnormal maternal nurturing ( J:80661 )

♀ • exhibited by females on a background involving ICR

endocrine/exocrine glands

abnormal testis morphology ( J:80661 )

♂

growth/size/body

decreased body size ( J:80661 )

enlarged spleen ( J:80661 )

hematopoietic system

enlarged spleen ( J:80661 )

abnormal B cell differentiation ( J:80661 )

decreased T cell number ( J:80661 )

• 80% reduction in the number of thymocytes

• severe reduction in the number of mature T cell precursors

homeostasis/metabolism

increased urine protein level ( J:80661 )

• observed in almost all aging mice

hematuria ( J:80661 )

• observed in some aging mice

immune system

enlarged spleen ( J:80661 )

abnormal B cell differentiation ( J:80661 )

decreased T cell number ( J:80661 )

• 80% reduction in the number of thymocytes

• severe reduction in the number of mature T cell precursors

enlarged lymph nodes ( J:80661 )

glomerulonephritis ( J:80661 )

renal/urinary system

increased urine protein level ( J:80661 )

• observed in almost all aging mice

hematuria ( J:80661 )

• observed in some aging mice

glomerulonephritis ( J:80661 )

reproductive system

azoospermia ( J:80661 )

♂ • absence of mature sperm in the seminiferous tubules

arrest of male meiosis ( J:80661 )

♂ • presence of spermatocytes and absence of spermatids

abnormal testis morphology ( J:80661 )

♂

reduced female fertility ( J:80661 )

♀ • approximately 30% of females produced offspring

male infertility ( J:80661 )

♂

cellular

azoospermia ( J:80661 )

♂ • absence of mature sperm in the seminiferous tubules

arrest of male meiosis ( J:80661 )

♂ • presence of spermatocytes and absence of spermatids

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital disorder of glycosylation type IIa		DOID:0070253	OMIM:212066	J:80661