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Strain Name:

B6SJL-Chrdtm1Emdr/J

Stock Number:

007552

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Genes & Alleles   Chrd;   Chrdtm1Emdr;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Targeted Mutation
Specieslaboratory mouse
Donating Investigator Edward De Robertis,   University of California, Los Angeles

Strain Description
Mice that are homozygous for the targeted mutation die at birth. They display an extensive array of head and neck congenital malformations simlar to the DiGeorge and Velo-Cardio-Facial syndromes. At low penetrance, they show early lethality and a ventralized gastrulation phenotype. No transcription was found by in situ hybridization of gastrulation phase embryos. Some heterozygotes display a circling behavior.

Strain Development
A targeting vector was designed to introduce stop codons in the three possible reading frames of the gene at the unique SfiI site upstream of the cysteine repeat 1 (CR1) region. An IRES-lacZ-Neomycin cassette was placed immediately after CR1. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. Resultant chimeric mice were bred to B6SJLF1/J mice for approximately 30 generations by the donating laboratory. The lacZ reporter is present, but is not functional.

Related Disease (OMIM) Terms

DiGeorge Syndrome; DGS
Velocardiofacial Syndrome
Mammalian Phenotype Terms assigned by genotype

Chrdtm1Emdr/Chrdtm1Emdr

        either: B6SJL.129-Chrdtm1Emdr or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J)
  • lethality-prenatal/perinatal
  • embryonic lethality before turning of embryo (MGI Ref ID J:83662)
    • 12% of homozygous mutant embryos are resorbed at E8.5 (50 out of 57 expected)
    • no homozygotes with an abnormal allantois survive past E8.5
  • lethality throughout fetal growth and development (MGI Ref ID J:83662)
    • 86% of homozygotes are still alive at E14.5; however, a sharp increase in lethality is noted after E14.5
  • perinatal lethality (MGI Ref ID J:83662)
    • only 49% (95 out of 194) of homozygotes are recovered at birth
    • a few attempt, unsuccessfully, to inflate their lungs
    • most are still born due to cardio-respiratory failure
  • embryogenesis phenotype
  • abnormal embryonic tissue morphology (MGI Ref ID J:83662)
    • at E8.5, 4 of 50 homozygotes display a reduced embryonic region, while the remaining 46 appear morphologically normal
    • abnormal branchial pouch morphology (MGI Ref ID J:83662)
      • at E9.5, the pharyngeal pouches are reduced to a single swelling in the anterior-most region
    • abnormal neural crest cell migration (MGI Ref ID J:83662)
      • at E10.5, homozygotes show absence of neural crest cell migration through the peripharyngeal region into the proximity of the heart, resulting in lack of outflow tract septation
    • absent branchial arches (MGI Ref ID J:83662)
      • at E9.0, the second (hyoid) pharyngeal arch is absent
      • in addition, pharyngeal arches three to six fail to form
    • absent notochord (MGI Ref ID J:83662)
      • at E8.5, 4 of 50 homozygotes display absence of a notochord
      • homozygotes that die perinatally show absence of an anterior notochord at E14.5
    • absent somites (MGI Ref ID J:83662)
      • at E8.5, 4 of 50 homozygotes display absence of somites
  • abnormal extraembryonic tissue morphology (MGI Ref ID J:83662)
    • enlarged allantois (MGI Ref ID J:83662)
      • at E8.5, 4 of 50 homozygotes display an enlarged allantois with an abundance of extraembryonic mesodermal cells
  • abnormal mesoderm development (MGI Ref ID J:83662)
    • at E8.5, 4 of 50 homozygotes show early ventralization of the mesoderm, with increased extraembryonic mesodermal cells noted in the allantois
    • absent mesoderm (MGI Ref ID J:83662)
      • at E8.5, 4 of 50 homozygotes display absence of trunk mesoderm
  • reduced embryo size (MGI Ref ID J:83662)
    • at E8.5, 4 of 50 homozygotes display a reduced body size
  • craniofacial phenotype
  • abnormal cranial base morphology (MGI Ref ID J:83662)
    • newborn homozygotes display fused basioccipital and basisphenoid bones while the alisphenoid appears normal
    • fusion of basioccipital and basisphenoid bone (MGI Ref ID J:83662)
      • newborn homozygotes display fused basioccipital and basisphenoid bones
      • at E14.5, the basioccipital and basisphenoid cartilages are fused; the ossification centre of the basioccipital is narrower and extends into the basisphenoid
    • presphenoid bone hypoplasia (MGI Ref ID J:83662)
      • newborn homozygotes display a hypoplastic presphenoid bone
  • abnormal ear distance/ position (MGI Ref ID J:83662)
    • newborn homozygotes have external ears that are set abnormally close to the eyes
  • abnormal hyoid bone morphology (MGI Ref ID J:83662)
    • newborn homozygotes exhibit hyoid bone hypoplasia
  • abnormal mandible morphology (MGI Ref ID J:83662)
    • newborn homozygotes lack the coronoid, condylar and angular processes
    • absent mandibular angle (MGI Ref ID J:83662)
      • newborn homozygotes lack the angular process
    • absent mandibular condyloid process (MGI Ref ID J:83662)
      • newborn homozygotes lack the condylar process
    • absent mandibular coronoid process (MGI Ref ID J:83662)
      • newborn homozygotes lack the coronoid process
    • short mandible (MGI Ref ID J:83662)
      • newborn homozygotes display an abnormally small jaw
  • abnormal palate morphology (MGI Ref ID J:83662)
    • newborn homozygotes lack a secondary palate
  • abnormal palatine bone morphology (MGI Ref ID J:83662)
    • the palatine shelves fail to extend medially to form the secondary palate
  • abnormal squamosal bone morphology (MGI Ref ID J:83662)
    • newborn homozygotes lack the squama temporalis
  • abnormal zygomatic arch morphology (MGI Ref ID J:83662)
    • newborn homozygotes display a shorter zygomatic arch
  • absent branchial arches (MGI Ref ID J:83662)
    • at E9.0, the second (hyoid) pharyngeal arch is absent
    • in addition, pharyngeal arches three to six fail to form
  • microcephaly (MGI Ref ID J:83662)
    • newborn homozygotes display microcephaly
  • small ears (MGI Ref ID J:83662)
    • newborn homozygotes exhibit small external ears
  • small temporal bone (MGI Ref ID J:83662)
    • newborn homozygotes a smaller temporal bone
  • cardiovascular system phenotype
  • abnormal artery morphology (MGI Ref ID J:83662)
    • at E14.5, homozygotes exhibit an enlarged anterior spinal artery
    • abnormal aortic arch morphology (MGI Ref ID J:83662)
      • at birth, part of the aortic arch is absent
      • retroesophageal right subclavian artery (MGI Ref ID J:83662)
        • depending of the laterality of the descending aorta, the right or left subclavian arteries adopt an abnormal retrooesophageal position
      • right aortic arch (MGI Ref ID J:83662)
        • 40% of newborn homozygotes display an abnormal right-turning aortic arch; the descending aorta is placed on the right side of the esophagus and the left subclavian runs posterior to it
    • abnormal carotid artery morphology (MGI Ref ID J:83662)
      • in newborns, the common carotid arteries directly join the truncus arteriosus, resulting in the absence of the brachiocephalic artery and part of the aortic arch
    • abnormal pulmonary trunk morphology (MGI Ref ID J:83662)
      • in newborns, the pulmonary arteries originate directly from the proximal truncus arteriosus, resulting in the absence of a common pulmonary trunk
  • hemorrhage (MGI Ref ID J:83662)
    • at E14.5, homozygotes exhibit severe hemorrhage
  • increased vasodilation (MGI Ref ID J:83662)
  • persistent truncus arteriosis (MGI Ref ID J:83662)
    • at E14.5, homozygotes exhibit persistent truncus arteriosus
  • right ventricle hypertrophy (MGI Ref ID J:83662)
  • skeleton phenotype
  • abnormal cervical atlas morphology (MGI Ref ID J:83662)
    • newborn homozygotes lack the anterior arch of the atlas
  • abnormal cranial base morphology (MGI Ref ID J:83662)
    • newborn homozygotes display fused basioccipital and basisphenoid bones while the alisphenoid appears normal
    • fusion of basioccipital and basisphenoid bone (MGI Ref ID J:83662)
      • newborn homozygotes display fused basioccipital and basisphenoid bones
      • at E14.5, the basioccipital and basisphenoid cartilages are fused; the ossification centre of the basioccipital is narrower and extends into the basisphenoid
    • presphenoid bone hypoplasia (MGI Ref ID J:83662)
      • newborn homozygotes display a hypoplastic presphenoid bone
  • abnormal hyoid bone morphology (MGI Ref ID J:83662)
    • newborn homozygotes exhibit hyoid bone hypoplasia
  • abnormal laryngeal cartilage morphology (MGI Ref ID J:83662)
    • newborn homozygotes display reduced laryngeal cartilages
    • abnormal cricoid cartilage morphology (MGI Ref ID J:83662)
      • newborn homozygotes exhibit cricoid cartilage hypoplasia
    • abnormal thyroid cartilage morphology (MGI Ref ID J:83662)
      • newborn homozygotes exhibit thyroid cartilage hypoplasia
  • abnormal mandible morphology (MGI Ref ID J:83662)
    • newborn homozygotes lack the coronoid, condylar and angular processes
    • absent mandibular angle (MGI Ref ID J:83662)
      • newborn homozygotes lack the angular process
    • absent mandibular condyloid process (MGI Ref ID J:83662)
      • newborn homozygotes lack the condylar process
    • absent mandibular coronoid process (MGI Ref ID J:83662)
      • newborn homozygotes lack the coronoid process
    • short mandible (MGI Ref ID J:83662)
      • newborn homozygotes display an abnormally small jaw
  • abnormal palatine bone morphology (MGI Ref ID J:83662)
    • the palatine shelves fail to extend medially to form the secondary palate
  • abnormal squamosal bone morphology (MGI Ref ID J:83662)
    • newborn homozygotes lack the squama temporalis
  • abnormal thoracic vertebrae morphology (MGI Ref ID J:83662)
  • abnormal vertebral arch development (MGI Ref ID J:83662)
    • at E14.5, homozygotes display underdeveloped vertebral neural arches
  • abnormal zygomatic arch morphology (MGI Ref ID J:83662)
    • newborn homozygotes display a shorter zygomatic arch
  • small temporal bone (MGI Ref ID J:83662)
    • newborn homozygotes a smaller temporal bone
  • small vertebral body (MGI Ref ID J:83662)
    • newborn homozygotes exhibit reduced vertebral bodies, with delayed ossification and occasional loss of other elements of the vertebrae e.g. spinous processes, neural arches and the anterior arch of the atlas
  • hearing/vestibular/ear phenotype
  • abnormal ear distance/ position (MGI Ref ID J:83662)
    • newborn homozygotes have external ears that are set abnormally close to the eyes
  • abnormal middle ear morphology (MGI Ref ID J:83662)
    • abnormal tympanic ring morphology (MGI Ref ID J:83662)
      • newborn homozygotes display a malformed tympanic ring
      • decreased tympanic ring size (MGI Ref ID J:83662)
        • newborn homozygotes display a reduced tympanic ring
    • absent auditory tube (MGI Ref ID J:83662)
      • at E14.5, homozygotes exhibit absence of the Eustachian tube
  • absent inner ear (MGI Ref ID J:83662)
    • newborn homozygotes exhibit hypoplasia/absence of the inner ear
  • small ears (MGI Ref ID J:83662)
    • newborn homozygotes exhibit small external ears
  • small otic capsule (MGI Ref ID J:83662)
    • newborn homozygotes display a malformed and reduced otic capsule
  • small otic vesicle (MGI Ref ID J:83662)
    • at E9.0, otic vesicles are reduced to half their normal diameter
    • a conspicuous indentation is noted in the neck region
  • endocrine/exocrine gland phenotype
  • abnormal thyroid gland morphology (MGI Ref ID J:83662)
    • newborn homozygotes exhibit a thyroid gland of irregular shape
    • thyroid hypoplasia (MGI Ref ID J:83662)
      • newborn homozygotes display thyroid hypoplasia
  • absent parathyroid glands (MGI Ref ID J:83662)
    • newborn homozygotes lack parathyroid glands (derivatives of pharyngeal pouches 3 and 4)
  • nervous system phenotype
  • abnormal cranial ganglia morphology (MGI Ref ID J:83662)
    • at E9.5, homozygotes display severe cranial sensory ganglia abnormalities, including loss of epibranchial placode-derived ganglia
    • abnormal trigeminal ganglion morphology (MGI Ref ID J:83662)
      • at E9.5, the trigeminal ganglia are deformed and displaced
    • absent nodose ganglion (MGI Ref ID J:83662)
      • at E9.5, the nodose ganglion is either extremely reduced or entirely absent
    • absent petrosal ganglion (MGI Ref ID J:83662)
      • at E9.5, the petrosal ganglion is either extremely reduced or entirely absent
    • small geniculate ganglion (MGI Ref ID J:83662)
      • at E9.5, the geniculate ganglion is either extremely reduced or entirely absent
    • small nodose ganglion (MGI Ref ID J:83662)
      • at E9.5, the nodose ganglion is either extremely reduced or entirely absent
    • small petrosal ganglion (MGI Ref ID J:83662)
      • at E9.5, the petrosal ganglion is either extremely reduced or entirely absent
  • abnormal neural crest cell migration (MGI Ref ID J:83662)
    • at E10.5, homozygotes show absence of neural crest cell migration through the peripharyngeal region into the proximity of the heart, resulting in lack of outflow tract septation
  • abnormal neural plate morphology (MGI Ref ID J:83662)
    • at E8.5, 4 of 50 homozygotes exhibit a significantly hypoplastic and poorly differentiated neural plate
  • abnormal vestibulocochlear ganglion morphology (MGI Ref ID J:83662)
    • at E9.5, the vestibulocochlear ganglia are deformed and displaced
  • respiratory system phenotype
  • abnormal laryngeal cartilage morphology (MGI Ref ID J:83662)
    • newborn homozygotes display reduced laryngeal cartilages
    • abnormal cricoid cartilage morphology (MGI Ref ID J:83662)
      • newborn homozygotes exhibit cricoid cartilage hypoplasia
    • abnormal thyroid cartilage morphology (MGI Ref ID J:83662)
      • newborn homozygotes exhibit thyroid cartilage hypoplasia
  • abnormal oropharynx morphology (MGI Ref ID J:83662)
    • newborn homozygotes exhibit malformations in the oropharynx region
  • small pharynx (MGI Ref ID J:83662)
    • at E14.5, homozygotes exhibit a significantly reduced pharynx
    • at E9.5, homozygotes display a reduction of pharyngeal endoderm
  • small trachea (MGI Ref ID J:83662)
    • newborn homozygotes display a reduced tracheal size
  • hematopoietic system phenotype
  • athymia (MGI Ref ID J:83662)
    • newborn homozygotes lack a thymus (a derivative of the third pharyngeal pouch)
  • homeostasis/metabolism phenotype
  • cyanosis (MGI Ref ID J:83662)
    • newborn homozygotes appear cyanotic
  • hydrops fetalis (MGI Ref ID J:83662)
    • at E14.5, homozygotes exhibit severe edema
  • digestive/alimentary phenotype
  • abnormal palate morphology (MGI Ref ID J:83662)
    • newborn homozygotes lack a secondary palate
  • absent esophagus (MGI Ref ID J:83662)
    • newborn homozygotes lack an esophagus
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:83662)
    • newborn homozygotes are slightly smaller than wild type littermates
  • reduced embryo size (MGI Ref ID J:83662)
    • at E8.5, 4 of 50 homozygotes display a reduced body size
  • immune system phenotype
  • athymia (MGI Ref ID J:83662)
    • newborn homozygotes lack a thymus (a derivative of the third pharyngeal pouch)

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

Chrdtm1Emdr/Chrdtm1Emdr

        involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
  • lethality-prenatal/perinatal
  • perinatal lethality (MGI Ref ID J:60303)
    • homozygotes are stillborn with normal early development and neural induction
  • embryogenesis phenotype
  • abnormal branchial arch morphology (MGI Ref ID J:60303)
    • homozygotes display defects in pharyngeal organization
  • craniofacial phenotype
  • abnormal branchial arch morphology (MGI Ref ID J:60303)
    • homozygotes display defects in pharyngeal organization
  • cardiovascular system phenotype
  • abnormal cardiovascular development (MGI Ref ID J:60303)
    • homozygotes display defects in cardiovascular organization
  • hearing/vestibular/ear phenotype
  • abnormal ear development (MGI Ref ID J:60303)
    • at E12.5, homozygotes exhibit abnormal inner and outer ear development

Gene & Allele Details

Allele Symbol Chrdtm1Emdr
Allele Name targeted mutation 1, EM De Robertis
Common Name(s) ChdRV; Chrd-; Chrdtm1DR;
Mutation Made By Edward De Robertis,   University of California, Los Angeles
Strain of Origin(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
ES Cell Line NameR1
ES Cell Line Strain(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Gene Symbol and Name Chrd, chordin
Chromosome 16
Gene Common Name(s) Chd; MGC133038;
Molecular Note Stop codons are inserted into all three reading frames of the signal sequence followed by a frameshift and the insertion, after CR1, of IRES-lacZ and PGK-neo cassettes to further disrupt the gene. Gene transcripts were undetectable in "node stage" embryos. [MGI Ref ID J:60303] [MGI Ref ID J:83662]

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, these mice are bred as heterozygotes. Homozygotes have a perinatal lethal phenotype.

Research Applications

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

Developmental Biology Research
Craniofacial and Palate Defects
Perinatal Lethality

References

Selected Reference(s)

Bachiller D; Klingensmith J; Shneyder N; Tran U; Anderson R; Rossant J; De Robertis EM. 2003. The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. Development 130(15):3567-78. [PubMed: 12810603]  [MGI Ref ID J:83662]

Additional References

Price and Supply Information

Strain Name: B6SJL-Chrdtm1Emdr/J
Stock Number: 007552

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Induced Mutant Resource Colony collection.

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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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