B4galt1<tm2Shur> Targeted Allele Detail MGI Mouse (MGI:3771315)

B4galt1^tm2Shur
Targeted Allele Detail

Nomenclature

Symbol:	B4galt1^tm2Shur
Name:	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1; targeted mutation 2, Barry D Shur
MGI ID:	MGI:3771315
Synonyms:	GalT-null, Long GalT-Null, long gt^-
Gene:	B4galt1 Location: Chr4:40751635-40801038 bp, - strand Genetic Position: Chr4, 18.6 cM

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:43773
Parent Cell Line:	AB1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1⁺

Mutation
description

Allele Type:	Targeted (knock-in)
Mutations:	Insertion, Nucleotide substitutions
	A targeting vector containing a neomycin resistance and herpes simplex virus thymidine kinase genes was used to insert a point mutation into the first translation initiation codon in exon 1, which initiates translation of the long isoform. Expression of the long isoform is eliminated. Expression of the short isoform is unaffected. (J:43773)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any B4galt1 Mutation:	21 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

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Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1
endocrine/exocrine glands		√
abnormal branching of the mammary ductal tree		√
abnormal mammary gland growth during pregnancy		√
abnormal milk composition		√
		hm1
homeostasis/metabolism		√
homeostasis/metabolism phenotype		N
abnormal enzyme/coenzyme activity		√
		hm1
reproductive system		√
abnormal branching of the mammary ductal tree		√
abnormal mammary gland growth during pregnancy		√
abnormal milk composition		√
abnormal fertilization		√
impaired acrosome reaction		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1

B4galt1^tm2Shur/B4galt1^tm2Shur

involves: 129S7/SvEvBrd * C57BL/6J

reproductive systemabnormal 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

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 glandsabnormal 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/metabolismhomeostasis/metabolism phenotype (J:43773)

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

References

Original:	J:43773 Lu Q et al., "Sperm from beta 1,4-galactosyltransferase-null mice are refractory to ZP3-induced acrosome reactions and penetrate the zona pellucida poorly." Development 1997 Oct;124(20):4121-31
All:	2 reference(s)

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