Phenotypes associated with this allele

• Allele Symbol: B4galt1^tm2Shur
• Allele Name: targeted mutation 2, Barry D Shur
• Allele ID: MGI:3771315
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	B4galt1^tm2Shur/B4galt1^tm2Shur	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3771333

Genotype
MGI:3771333

hm1

• Allelic Composition: B4galt1^tm2Shur/B4galt1^tm2Shur
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

reproductive system

abnormal mammary gland growth during pregnancy ( J:75957 )

♀ • at day 15 of pregnancy, glands show increased density of alveoli compared to wild-type, as well as an abnormal branching pattern

♀ • incidence of alveolar budding and side branches along the ducts is significantly increased, resulting in multiple alveoli along epithelial ducts in between side branches

♀ • glands display precocious differentiation; alveolar epithelia have increased numbers of secretory vesicles at day 15 of pregnancy compared to wild-type mice

abnormal fertilization ( J:43773 )

• males are fertile, but their sperm binds to the zona with much greater efficacy than wild-type sperm

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

endocrine/exocrine glands

abnormal branching of the mammary ductal tree ( J:75957 )

♀ • mammary glands exhibit increased branching and increased density of ducts; interbranch distance is significantly reduced by >40% compared to wild-type

abnormal mammary gland growth during pregnancy ( J:75957 )

♀ • at day 15 of pregnancy, glands show increased density of alveoli compared to wild-type, as well as an abnormal branching pattern

♀ • incidence of alveolar budding and side branches along the ducts is significantly increased, resulting in multiple alveoli along epithelial ducts in between side branches

♀ • glands display precocious differentiation; alveolar epithelia have increased numbers of secretory vesicles at day 15 of pregnancy compared to wild-type mice

abnormal milk composition ( J:75957 )

♀ • alpha-lactalbumin is elevated 2-fold in mutant mammary glands at day 17 of pregnancy; beta-casein and whey acidic protein are elevated, but not statistically significantly compared to wild-type

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:43773 )

N • mice do not display endocrine insufficiency like B4Galt1^tm1Shur mice; anterior pituitary hormones have normal glycosylation

abnormal enzyme/coenzyme activity ( J:75957 )

• in cultured mammary epithelial cells, total enzyme activity (B1,4-galacosyltransferase ) is reduced by ~28% compared to wild-type cells; activity on surface of mammary epithelial cells is reduced ~60% relative to wild-type cells

integument

abnormal branching of the mammary ductal tree ( J:75957 )

♀ • mammary glands exhibit increased branching and increased density of ducts; interbranch distance is significantly reduced by >40% compared to wild-type

abnormal mammary gland growth during pregnancy ( J:75957 )

♀ • at day 15 of pregnancy, glands show increased density of alveoli compared to wild-type, as well as an abnormal branching pattern

♀ • incidence of alveolar budding and side branches along the ducts is significantly increased, resulting in multiple alveoli along epithelial ducts in between side branches

♀ • glands display precocious differentiation; alveolar epithelia have increased numbers of secretory vesicles at day 15 of pregnancy compared to wild-type mice

abnormal milk composition ( J:75957 )

♀ • alpha-lactalbumin is elevated 2-fold in mutant mammary glands at day 17 of pregnancy; beta-casein and whey acidic protein are elevated, but not statistically significantly compared to wild-type