Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N4F7pN1   Donating Investigator Barry Shur,   Emory University

Description
Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Ninety percent of homozygotes die soon after birth or within two to three weeks of birth. Surviving homozygotes are initially smaller than wild-type or heterozygotes and exhibit abnormal skin and coat, but assume a normal growth rate and appearance at three to four weeks of age. No gene product (mRNA) is detected by RT-PCR analysis of homozygous tissues. Neither the long or short isoform is expressed. Beta 1,4-galactosyltransferase enzyme activity is undetectable except for residual activity in brain and testis. Galactose residues are absent from testis. Heterozygotes have an intermediate enzyme activity level. Surviving homozygotes exhibit puffy faces (hypothyroid myxedema), thin skin, decreased density of hair follicles, reduction in subdermal adipose tissue, delayed spermatogenesis and incomplete lung development. Histological analysis reveals thick lung septa, small alveoli, diminished size and stratification of the adrenal cortex, and abnormally small anterior pituitary. Homozygous females are unable to deliver pups (dystocia) and do not lactate (agalactosis). Homozygous males are fertile. Sperm from homozygotes have increased binding to unfertilized eggs, bind ZP3 (zona pellucida glycoprotein 3) less and demonstrate poor zona pellucida penetration when compared to sperm from wild-type controls. Although able to undergo normal acrosomal exocytosis induced by calcium ionophore, homozygous sperm do not exhibit acrosome reaction to zona pellucida glycoproteins or anti-galactosyltransferase antibodies. Serum levels of thyroxine (T4) and T3 is reduced during the neonate period and then return to normal. Liver enzymes are elevated. This mutant mouse strain may be useful in studies of glycosidic molecular interactions and function, and polyglandular endocrine insufficiency.

This strain was transferred from the collection of the Consortium for Functional Glycomics.

Development
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt 1.9kb of sequence from exon 1, which encodes all of the cytoplasmic and transmembrane domains as well as part of the extracellular region. The construct was electroporated into 129S7/SvEvBrd-Hprt1⁺ derived AB1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric animals were crossed to C57BL/6J mice, and then backcrossed to C57BL/6J for 4 generations before arriving at The Jackson Laboratory. The mice were then crossed to C57BL/6J for one generation.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of B4galt1

006943

B6.129S7-B4galt1tm2Shur/J

View Strains carrying other alleles of B4galt1     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

B4galt1^tm1Shur/B4galt1^tm1Shur

        involves: 129S7/SvEvBrd * C57BL/6J

• lethality-prenatal/perinatal
• neonatal lethality (MGI Ref ID J:37846)
  • some die soon after birth
  • ~85% of animals die during neonatal period from polyglandular endocrine insufficiency, but remaining 15% recover and grow into sexually mature adults
• lethality-postnatal
• postnatal lethality (MGI Ref ID J:37846)
  • most die within 2-3 weeks after birth, although about 10% survive to adulthood
• growth/size phenotype
• postnatal growth retardation (MGI Ref ID 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 gland phenotype
• abnormal adenohypophysis morphology (MGI Ref ID 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 (MGI Ref ID J:37846)
  • the anterior pituitary gland is reduced in size and is thinner, however the posterior pituitary appears normal sized
• abnormal adrenal cortex morphology (MGI Ref ID J:37846)
  • adrenal cortices are poorly stratified
• abnormal zona fasciculata morphology (MGI Ref ID J:37846)
  • mice exhibit reduced differentiation of the intermediate zona fasciculata
• abnormal zona reticularis morphology (MGI Ref ID J:37846)
  • mice exhibit reduced differentiation of the inner zona reticularis
• abnormal lactation (MGI Ref ID J:37846)
  • the few surviving females fail to lactate (agalactosis)
• small adrenal glands (MGI Ref ID J:37846)
• small seminiferous tubules (MGI Ref ID J:37846)
• skin/coat/nails phenotype
• decreased hair follicle number (MGI Ref ID J:37846)
  • show a reduction in the density of hair follicles
• sparse hair (MGI Ref ID J:37846)
• thin skin (MGI Ref ID J:37846)
• homeostasis/metabolism phenotype
• abnormal enzyme/coenzyme activity (MGI Ref ID J:43773)
  • B1,4-galactosyltransferase activity is reduced to <10% of wild-type levels in sperm
• decreased circulating thyroxine level (MGI Ref ID J:37846)
• dehydration (MGI Ref ID J:37846)
  • become dehydrated prior to death
• adipose tissue phenotype
• decreased subcutaneous adipose tissue amount (MGI Ref ID J:37846)
  • show a reduction in the density of subdermal adipose tissue
• respiratory system phenotype
• abnormal lung morphology (MGI Ref ID J:37846)
  • show poorly differentiated lung parenchyma containing thick septa and small alveoli
• abnormal respiratory alveoli morphology (MGI Ref ID J:37846)
  • exhibit small alveoli
• thick alveolar septum (MGI Ref ID J:37846)
• reproductive system phenotype
• abnormal fertilization (MGI Ref ID 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)
• impaired acrosome reaction (MGI Ref ID 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
• abnormal lactation (MGI Ref ID J:37846)
  • the few surviving females fail to lactate (agalactosis)
• abnormal parturition (MGI Ref ID J:37846)
  • the few surviving females show difficulty delivering pups at birth (dystocia)
• abnormal sperm physiology (MGI Ref ID J:43773)
  • cauda epididymal sperm is released as single cells in contrast to the large aggregates seen in wild-type males
• abnormal sperm motility (MGI Ref ID J:43773)
• impaired acrosome reaction (MGI Ref ID 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
• abnormal spermatogenesis (MGI Ref ID 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 (MGI Ref ID 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
• small seminiferous tubules (MGI Ref ID J:37846)
• nervous system phenotype
• abnormal adenohypophysis morphology (MGI Ref ID 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 (MGI Ref ID J:37846)
  • the anterior pituitary gland is reduced in size and is thinner, however the posterior pituitary appears normal sized
• digestive/alimentary phenotype
• *normal* digestive/alimentary phenotype (MGI Ref ID J:37846)
  • do not exhibit any evidence of intestinal epithelial pathology

Genes & Alleles

Gene & Allele Information

Allele Symbol		B4galt1tm1Shur
Allele Name		targeted mutation 1, Barry D Shur
Allele Type		Targeted (knock-out)
Common Name(s)		GalTase-null; gt -; total gt-/-;
Mutation Made By		Peter Sobieszczuk,   Consortium for Functional Glycomics,TSRI
Strain of Origin		129S7/SvEvBrd-Hprt1<+>
ES Cell Line Name		AB1
ES Cell Line Strain		129S7/SvEvBrd-Hprt1<+>
Gene Symbol and Name		B4galt1, UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Chromosome		4
Gene Common Name(s)		AA407245; B-1,4-GalT1; B4GAL-T1; DKFZp686N19253; GGTB2; GT1; GTB; GalT; Ggtb; Ggtb2; MGC50983; b1,4-Galactosyltransferase I; beta 1,4-Galactosyltransferase I; beta-1,4-GalT1; beta4Gal-T1; expressed sequence AA407245; galactosyltransferase 2 beta 1, 4; glycoprotein galactosyltransferase beta 1, 4;
General Note		Phenotypic Similarity to Human Syndrome: polyglandular endocrine insufficiency (J:37846).
Molecular Note		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. [MGI Ref ID J:37846]

Genotyping

Genotyping Information

Genotyping Protocols

B4galt1^tm1Shur, SEP PCR, vers. 1

Helpful Links

Genotyping resources and troubleshooting

References

References

Selected Reference(s)

Lu Q; Hasty P; Shur BD. 1997. Targeted mutation in beta1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality. Dev Biol 181(2):257-67. [PubMed: 9013935]  [MGI Ref ID J:37846]

Additional References

B4galt1^tm1Shur related

Chen J; Lu L; Shi S; Stanley P. 2006. Expression of Notch signaling pathway genes in mouse embryos lacking beta4galactosyltransferase-1. Gene Expr Patterns 6(4):376-82. [PubMed: 16412699]  [MGI Ref ID J:105958]

Lu Q; Shur BD. 1997. Sperm from beta 1,4-galactosyltransferase-null mice are refractory to ZP3-induced acrosome reactions and penetrate the zona pellucida poorly. Development 124(20):4121-31. [PubMed: 9374408]  [MGI Ref ID J:43773]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice can be bred as heterozygotes. Ninety percent of homozygotes die within 2-3 weeks of birth.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. At least two animals carrying the mutation of interest will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location). This strain is included in the Induced Mutant Resource Colony collection.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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