Phenotypes Associated with This Genotype

Genotype
MGI:3664861

• Allelic Composition: B4galt1^tm1Shur/B4galt1^tm1Shur
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:37846 , J:43773 )

• some die soon after birth (J:37846)

• ~85% of animals die during neonatal period from polyglandular endocrine insufficiency, but remaining 15% recover and grow into sexually mature adults (J:43773)

postnatal lethality, incomplete penetrance ( J:37846 )

• most die within 2-3 weeks after birth, although about 10% survive to adulthood

growth/size/body

postnatal growth retardation ( J:37846 )

• grow much slower after birth, however those that survive to adulthood recover a normal growth rate between 3 and 4 weeks of age

endocrine/exocrine glands

abnormal adrenal cortex morphology ( J:37846 )

• adrenal cortices are poorly stratified

abnormal adrenal gland zona fasciculata morphology ( J:37846 )

• mice exhibit reduced differentiation of the intermediate zona fasciculata

abnormal adrenal gland zona reticularis morphology ( J:37846 )

• mice exhibit reduced differentiation of the inner zona reticularis

small adrenal glands ( J:37846 )

abnormal adenohypophysis development ( J:37846 )

• the anterior pituitary appears developmentally delayed in newborns, however the cells of the anterior pituitary acquire a normal secretory phenotype during postnatal development

small adenohypophysis ( J:37846 )

• the anterior pituitary gland is reduced in size and is thinner, however the posterior pituitary appears normal sized

small seminiferous tubules ( J:37846 )

♂

lactation failure ( J:37846 )

♀ • the few surviving females fail to lactate (agalactosis)

homeostasis/metabolism

decreased circulating thyroxine level ( J:37846 )

dehydration ( J:37846 )

• become dehydrated prior to death

abnormal enzyme/coenzyme activity ( J:43773 )

• B1,4-galactosyltransferase activity is reduced to <10% of wild-type levels in sperm

adipose tissue

decreased subcutaneous adipose tissue amount ( J:37846 )

• show a reduction in the density of subdermal adipose tissue

respiratory system

abnormal pulmonary alveolar system morphology ( J:37846 )

• show poorly differentiated lung parenchyma containing thick septa and small alveoli

abnormal pulmonary alveolus morphology ( J:37846 )

• exhibit small alveoli

thick pulmonary interalveolar septum ( J:37846 )

reproductive system

small seminiferous tubules ( J:37846 )

♂

abnormal spermatogenesis ( J:37846 )

♂ • spermatogenesis is delayed as evidenced by the predominance of pachytene spermatocytes relative to the predominance of round and late spermatids in wild-type

long gestation period ( J:43773 )

♀ • gestation time of litters from insemination by mutant males is 1 day longer than that from litters resulting insemination by wild-type males

dystocia ( J:37846 )

♀ • the few surviving females show difficulty delivering pups at birth (dystocia)

abnormal fertilization ( J:43773 )

• cauda epididymal sperm binds to the zona with much greater efficacy than wild-type sperm; 3-fold more sperm remain adherent to the zona after washing than wild-type sperm

• when sperm are incubated in vitro with eggs, after 3 hours mutant sperm penetrate the zona pellucida only 21% as frequently as wild-type sperm; when the zona-block to polyspermy is heat-inactivated, wild-type sperm continue to penetrated the zona matrix, but mutant sperm are relatively unable to penetrate (efficiency is only ~7% that of wild-type)

abnormal sperm physiology ( J:43773 )

♂ • cauda epididymal sperm is released as single cells in contrast to the large aggregates seen in wild-type males

abnormal sperm motility ( J:43773 )

♂

impaired acrosome reaction ( J:43773 )

♂ • sperm do not respond to B1,4-galacosyltransferase or zona pellucida proteins in an acrosome reaction, but response to calcium ionophore is normal

nervous system

abnormal adenohypophysis development ( J:37846 )

• the anterior pituitary appears developmentally delayed in newborns, however the cells of the anterior pituitary acquire a normal secretory phenotype during postnatal development

small adenohypophysis ( J:37846 )

• the anterior pituitary gland is reduced in size and is thinner, however the posterior pituitary appears normal sized

digestive/alimentary system

digestive/alimentary phenotype ( J:37846 )

N • do not exhibit any evidence of intestinal epithelial pathology

integument

decreased subcutaneous adipose tissue amount ( J:37846 )

• show a reduction in the density of subdermal adipose tissue

lactation failure ( J:37846 )

♀ • the few surviving females fail to lactate (agalactosis)

sparse hair ( J:37846 )

decreased hair follicle number ( J:37846 )

• show a reduction in the density of hair follicles

thin skin ( J:37846 )

cellular

abnormal sperm motility ( J:43773 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
endocrine system disease		DOID:28		J:37846