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Strain Name:

B6.129S7-B4galt1tm1Shur/J

Stock Number:

006941

Availability:

Under Development for Distribution Colony

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Genes & Alleles   B4galt1;   B4galt1tm1Shur;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Targeted Mutation
Mating SystemHeterozygote x +/+ sibling         (Female x Male)
Specieslaboratory mouse
Donating Investigator Barry Shur,   Emory University
GenerationN5+ (10-JUL-08)

Strain 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 2-3 weeks of birth. Surviving homozygotes are initially smaller than wildtype or heterozygotes and exhibit abnormal skin and coat, but assume a normal growth rate and appearance at 3 to 4 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 wildtype 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.

Strain 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.

Mammalian Phenotype Terms assigned by genotype

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

B4galt1tm1Shur/B4galt1tm1Shur

        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
  • dwarfism (MGI Ref ID J:37846)
  • 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

Gene & Allele Details

Allele Symbol B4galt1tm1Shur
Allele Name targeted mutation 1, Barry D Shur
Common Name(s) GalTase-null; gt -; total gt-/-;
Mutation Made By Peter Sobieszczuk,   Consortium for Functional Glycomics,TSRI
Strain of Origin129S7/SvEvBrd-Hprt1<+>
ES Cell Line NameAB1
ES Cell Line Strain129S7/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]

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Genotyping Protocols

B4galt1tm1Shur

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, these mice can be bred as heterozygotes. Ninety percent of homozygotes die within 2-3 weeks of birth.
Diet Information LabDiet® 5K52/5K67

Related Strains

Strains carrying other alleles of B4galt1
006943   B6.129S7-B4galt1tm2Shur/J
View Strains carrying other alleles of B4galt1     (1 strain)

Additional Web Information

Congenic Nomenclature

Research Applications

This mouse can be used to support research in many areas including:

Cell Biology Research
Protein Processing

Endocrine Deficiency Research
Adipose Defects
Adrenal Cortex Defects
Gonad Defects
Skin Defects

Reproductive Biology Research
Endocrine Deficiencies Affecting Gonads

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

Price and Supply Information

Strain Name: B6.129S7-B4galt1tm1Shur/J
Stock Number: 006941
 

This strain is currently Under Development for Distribution Colony.
To register your interest in this strain go to the Strain Interest Form.

Estimated Available for Sale Date:

Please note: Estimated available for sale dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for sale depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain/interest registered.

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Supply Details

Standard SupplyUnder Development for Distribution Colony
Supply Notes This strain is included in the Induced Mutant Resource Colony collection.
LicensingSee General Terms and Conditions below for Licensing and Use Restrictions  
Control InformationView Control Information in Strain Details.

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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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