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Phenotypes Associated with This Genotype
Genotype
MGI:3664861
Allelic
Composition
B4galt1tm1Shur/B4galt1tm1Shur
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B4galt1tm1Shur mutation (1 available); any B4galt1 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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)
• most die within 2-3 weeks after birth, although about 10% survive to adulthood

growth/size/body
• 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
• adrenal cortices are poorly stratified
• mice exhibit reduced differentiation of the intermediate zona fasciculata
• mice exhibit reduced differentiation of the inner zona reticularis
• the anterior pituitary appears developmentally delayed in newborns, however the cells of the anterior pituitary acquire a normal secretory phenotype during postnatal development
• the anterior pituitary gland is reduced in size and is thinner, however the posterior pituitary appears normal sized
• the few surviving females fail to lactate (agalactosis)

homeostasis/metabolism
• become dehydrated prior to death
• B1,4-galactosyltransferase activity is reduced to <10% of wild-type levels in sperm

adipose tissue
• show a reduction in the density of subdermal adipose tissue

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

reproductive system
• spermatogenesis is delayed as evidenced by the predominance of pachytene spermatocytes relative to the predominance of round and late spermatids in wild-type
• gestation time of litters from insemination by mutant males is 1 day longer than that from litters resulting insemination by wild-type males
• the few surviving females show difficulty delivering pups at birth (dystocia)
• 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)
• cauda epididymal sperm is released as single cells in contrast to the large aggregates seen in wild-type males
• 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
• the anterior pituitary appears developmentally delayed in newborns, however the cells of the anterior pituitary acquire a normal secretory phenotype during postnatal development
• the anterior pituitary gland is reduced in size and is thinner, however the posterior pituitary appears normal sized

digestive/alimentary system
N
• do not exhibit any evidence of intestinal epithelial pathology

integument
• show a reduction in the density of subdermal adipose tissue
• the few surviving females fail to lactate (agalactosis)
• show a reduction in the density of hair follicles

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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory