B4galt1<tm1Shur> Targeted Allele Detail MGI Mouse (MGI:2178779)

B4galt1^tm1Shur
Targeted Allele Detail

Nomenclature

Symbol:	B4galt1^tm1Shur
Name:	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1; targeted mutation 1, Barry D Shur
MGI ID:	MGI:2178779
Synonyms:	GalTase-null, gt -, total 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:37846
Parent Cell Line:	AB1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1⁺

Mutation
description

Allele Type:	Targeted (knock-out)
Mutation:	Insertion
	A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt 1.9kb of sequence of exon 1, which encodes all of the cytoplasmic and transmembran domains as well as part of the extracellular region. Neither the long or short isoform of the encoded protein is expressed from this allele. (J:37846)

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

Expression

In Mice Carrying this Mutation:

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

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
adipose tissue		√
decreased subcutaneous adipose tissue amount		√
		hm1
digestive/alimentary system		N
digestive/alimentary system phenotype		N
		hm1
endocrine/exocrine glands		√
abnormal adrenal cortex morphology		√
abnormal zona fasciculata morphology		√
abnormal zona reticularis morphology		√
small adrenal glands		√
abnormal adenohypophysis morphology		√
small adenohypophysis		√
small seminiferous tubules		√
abnormal lactation		√
		hm1
growth/size		√
postnatal growth retardation		√
		hm1
homeostasis/metabolism		√
decreased circulating thyroxine level		√
dehydration		√
abnormal enzyme/coenzyme activity		√
		hm1
lethality/postnatal		√
postnatal lethality		√
		hm1
lethality/prenatal-perinatal		√
neonatal lethality		√
		hm1
nervous system		√
abnormal adenohypophysis morphology		√
small adenohypophysis		√
		hm1
reproductive system		√
small seminiferous tubules		√
abnormal lactation		√
abnormal spermatogenesis		√
long gestation period		√
abnormal parturition		√
abnormal fertilization		√
impaired acrosome reaction		√
abnormal sperm physiology		√
abnormal sperm motility		√
		hm1
respiratory system		√
abnormal lung morphology		√
abnormal respiratory alveoli morphology		√
thick alveolar septum		√
		hm1
skin/coat/nails		√
sparse hair		√
decreased hair follicle number		√
thin skin		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1

involves: 129S7/SvEvBrd * C57BL/6J

Notes

Phenotypic Similarity to Human Syndrome: polyglandular endocrine insufficiency (J:37846).

References

Original:	J:37846 Lu Q et al., "Targeted mutation in beta1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality." Dev Biol 1997 Jan 15;181(2):257-67
All:	3 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 11/20/2009 MGI_4.31 Web browser compatibility