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

Former Names FVB.Cg-Hydinhy3/J    (Changed: 03-NOV-08 ) Type Congenic; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse   Donating Investigator George B Witman,   Univ. of Massachusetts Medical School

Description
Mice homozygous for the hydrocephalus 3 spontaneous mutation of the hydrocephalus inducing gene (Hydin^hy3) are usually identifiable at three to five days. Those with frank hydrocephalus develop hydrocephalus with early perinatal onset, and most animals die by three to five weeks of age. Penetrance is incomplete. Hydrocephalus is associated with a central pair defect impairing ciliary motility and fluid transport in the brain. Hydin-deficiency also impairs the beat pattern of ependymal and tracheal cilia. These Hydin^hy3 mutant mice may be useful in neurological and developmental studies.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

Development
The hydrocephalus 3 mutation (hy3) arose spontaneously in a heterogeneous stock of laboratory mice held by Dr. Gruneberg in 1943. The mutation has been identified as a single base pair deletion in the Hydin gene that causes a premature stop resulting in the loss of 89% of the full-length gene product. The mutation was received at The Jackson Laboratory by Dr. M.C. Green from Dr. Gruneberg in 1963. The strain was maintained by brother x sister test matings and was at F76 in 1983. In 1995 the inbred strain stopped breeding and an outcross was made to B6CBACaF1 A^w/A to rescue the mutant strain. Tested males were then continuously backcrossed to the hybrid (and assigned as Stock No. 002703). Later, these mice were obtained by Dr. Michael L. Robinson (Columbus Children's Research Institute, The Ohio State University) and subsequently backcrossed to FVB/N for 11 generations (presumably converting the A locus to the FVB/N alleles). Then, Dr. George B. Witman and Dr. Karl-Ferdinand Lechtreck (University of Massachusetts Medical School) obtained these FVB/N-congenic Hydin^hy3 mutant mice and confirmed they still carried the Hydin^hy3 mutation. In 2008, these FVB/N-congenic Hydin^hy3 mice were sent to The Jackson Laboratory (and assigned Stock No. 008343).

Control Information

	Control
	Wild-type from the colony
	001800 FVB/NJ
Considerations for Choosing Controls

Related Strains

Strains carrying   Hydin^hy3 allele

002703

B6CBACa Aw-J/A-Hydinhy3/J

View Strains carrying   Hydin^hy3     (1 strain)

Strains carrying other alleles of Hydin

006428

B6.Cg-Hydinhyrh/GrsrJ

View Strains carrying other alleles of Hydin     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Ciliary Dyskinesia, Primary, 5; CILD5   (HYDIN)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Hydin^hy3/Hydin^hy3

        involves: FVB/N

• mortality/aging
• postnatal lethality
  • mice rarely survive beyond 3 weeks of age   (MGI Ref ID J:135322)
• nervous system phenotype
• abnormal brainstem morphology
  • small   (MGI Ref ID J:135322)
• abnormal ependyma motile cilium morphology
  • in the central axoneme apparatus of the ependymal cilia, the C2b projection is absent, the C1b projection is displaced or altered in shape and the C2c projection is reduced or absent compared to in wild-type cilia   (MGI Ref ID J:135322)
• hydroencephaly
  • hydroencephaly is associated with defective ependymal cilia bending, delayed switching between forward and backward motion, lower beat frequency, and impaired cilia-generated flow   (MGI Ref ID J:135322)
• small cerebellum   (MGI Ref ID J:135322)
• small olfactory bulb   (MGI Ref ID J:135322)
• respiratory system phenotype
• abnormal mucociliary clearance
  • tracheal cilia beating is impaired with delayed switching between forward and backward motion, lower beat frequency, and impaired cilia-generated flow   (MGI Ref ID J:135322)
• abnormal respiratory motile cilium morphology
  • in the central axoneme apparatus of the tracheal cilia, the C2b projection is absent and the C1b and C2c projections are displaced or altered in compared to in wild-type cilia   (MGI Ref ID J:135322)
• abnormal respiratory motile cilium physiology
  • tracheal cilia beating is impaired with delayed switching between forward and backward motion, lower beat frequency, and impaired cilia-generated flow   (MGI Ref ID J:135322)
• skeleton phenotype
• domed cranium   (MGI Ref ID J:135322)
• cardiovascular system phenotype
• hemorrhage
  • some mice exhibit severe hemorrhage below the skull   (MGI Ref ID J:135322)
• growth/size phenotype
• postnatal growth retardation
  • at P4   (MGI Ref ID J:135322)
• craniofacial phenotype
• domed cranium   (MGI Ref ID J:135322)

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

Hydin^hy3/Hydin^hy3

        involves: CBA

• mortality/aging
• premature death
  • usually die before 2 months of age, generally around 4-6 week   (MGI Ref ID J:13035)
• craniofacial phenotype
• abnormal cranium morphology
  • thin skull   (MGI Ref ID J:5426)
• • abnormal cranial suture morphology
    • open sutures   (MGI Ref ID J:5426)
  • domed cranium
    • develops after the first week of life   (MGI Ref ID J:13035)
  • enlarged cranium
    • skull volume doubled at birth, 0.88cc vs 0.44cc   (MGI Ref ID J:13035)
    • does not develop before 3-5 days after birth or possible the 2nd week of life   (MGI Ref ID J:13035)
  • enlarged parietal bone   (MGI Ref ID J:13103)
• nervous system phenotype
• abnormal brain meninges morphology
  • calvarium tends to adhere more tightly to brain   (MGI Ref ID J:13103)
  • reduction of meningeal layers at 8 days of age   (MGI Ref ID J:13103)
  • swelling of cells in meninges in the area of the foramina of Luschka and the otic capsules   (MGI Ref ID J:13103)
• abnormal cerebral aqueduct morphology
  • aqueduct of Sylvius occluded around 16 days of age   (MGI Ref ID J:5377)
• abnormal ependyma morphology
  • flattened cells in the ependymal lining   (MGI Ref ID J:5426)
• abnormal telencephalon morphology
  • enlargement of extracellular spaces in the white matter after occlusion of the aqueduct of Sylvius   (MGI Ref ID J:5377)
• • abnormal lateral ventricle morphology
    • foramina of Monro wider than normal   (MGI Ref ID J:13103)
  • • dilated lateral ventricles
      • enormously dilated at birth   (MGI Ref ID J:13035)
      • thinning of pallium but basal ganglia less affected   (MGI Ref ID J:13035)
      • not apparent before 3-5 days of age   (MGI Ref ID J:13035)
  • thin cerebral cortex
    • cerebral cortex smooth and very thin   (MGI Ref ID J:5426)
• hydroencephaly   (MGI Ref ID J:13035)
• growth/size phenotype
• cachexia
  • eventually loose weight   (MGI Ref ID J:13035)
  • in an emaciated condition at the time of death   (MGI Ref ID J:13035)
• postnatal growth retardation
  • general growth retardation   (MGI Ref ID J:13035)
  • never reach normal size   (MGI Ref ID J:13035)
• behavior/neurological phenotype
• abnormal aggression-related behavior
  • episodes of aggressive behavior   (MGI Ref ID J:5426)
• abnormal fear/anxiety-related behavior
  • "cowering" behavior observed at 21 days of age   (MGI Ref ID J:5426)
• ataxia   (MGI Ref ID J:5426)
• hypoactivity
  • become inactive as they age   (MGI Ref ID J:13035)
• reproductive system phenotype
• male infertility
  • probably (N=1)   (MGI Ref ID J:13035)
• muscle phenotype
• muscle spasm
  • develop spasticity of the hind limbs   (MGI Ref ID J:13103)
• respiratory system phenotype
• abnormal respiratory system physiology
  • nasal discharge composed of squamous epithelia and polymorphonuclear leukocytes   (MGI Ref ID J:13035)
  • nasal discharge not seen in later studies   (MGI Ref ID J:13103)
• skeleton phenotype
• abnormal cranium morphology
  • thin skull   (MGI Ref ID J:5426)
• • abnormal cranial suture morphology
    • open sutures   (MGI Ref ID J:5426)
  • domed cranium
    • develops after the first week of life   (MGI Ref ID J:13035)
  • enlarged cranium
    • skull volume doubled at birth, 0.88cc vs 0.44cc   (MGI Ref ID J:13035)
    • does not develop before 3-5 days after birth or possible the 2nd week of life   (MGI Ref ID J:13035)
  • enlarged parietal bone   (MGI Ref ID J:13103)
• kyphosis   (MGI Ref ID J:5426)

View Research Applications

Research Applications

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

Developmental Biology Research
Craniofacial and Palate Defects
      hydrocephaly: severely abnormal skull
Skeletal Defects
      hydrocephaly

Hydin^hy3 related

Developmental Biology Research
Neurodevelopmental Defects

Neurobiology Research
Neurodevelopmental Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Hydinhy3
Allele Name		hydrocephalus 3
Allele Type		Spontaneous
Common Name(s)		hy-3;
Gene Symbol and Name		Hydin, HYDIN, axonemal central pair apparatus protein
Chromosome		8
Gene Common Name(s)		1700034M11Rik; 4930545D19Rik; AC069308.21, gene model 4; AC069308.21gm4; RIKEN cDNA 1700034M11 gene; RIKEN cDNA 4930545D19 gene; hy-3; hy3; hydrocephalus 3; hydrocephalus with rhinitis; hyrh;
General Note		Phenotypic Similarity to Human Syndrome: Hydrocephalus in homozygous mice (J:5426)
Molecular Note		Matings between mice carrying a transgenic insertion allele in this gene and hy3 mice demonstrated that these two mutations fail to complement each other, and suggests that these two mutations are allelic and very likely result from disrupted function ofthe same gene or set of genes. [MGI Ref ID J:83437]

Genotyping

Genotyping Information

Genotyping Protocols

Hydin^hy3, Pyrosequencing

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Gruneberg H. 1943. Two new mutant genes in the house mouse. J Genet 45:22-28.  [MGI Ref ID J:13035]

Additional References

Hydin^hy3 related

Berry RJ. 1961. The inheritance and pathogenesis of hydrocephalus-3 in the mouse J Pathol Bacteriol 81:157-167.  [MGI Ref ID J:13103]

Davy BE; Robinson ML. 2003. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. Hum Mol Genet 12(10):1163-70. [PubMed: 12719380]  [MGI Ref ID J:83437]

Kabos P; Matundan H; Zandian M; Bertolotto C; Robinson ML; Davy BE; Yu JS; Krueger RC Jr. 2004. Neural precursors express multiple chondroitin sulfate proteoglycans, including the lectican family. Biochem Biophys Res Commun 318(4):955-63. [PubMed: 15147965]  [MGI Ref ID J:90103]

Lechtreck KF; Delmotte P; Robinson ML; Sanderson MJ; Witman GB. 2008. Mutations in Hydin impair ciliary motility in mice. J Cell Biol 180(3):633-43. [PubMed: 18250199]  [MGI Ref ID J:135322]

McLone DG; Bondareff W; Raimondi AJ. 1973. Hydrocephalus-3, a Murine mutant. II. Changes in the brain extracellular space. Surg Neurol 1(4):233-42. [PubMed: 4732188]  [MGI Ref ID J:5377]

Raimondi AJ; Bailey OT; McLone DG; Lawson RF; Echeverry A. 1973. The pathophysiology and morphology of murine hydrocephalus in Hy-3 and Ch mutants. Surg Neurol 1(1):50-5. [PubMed: 4784576]  [MGI Ref ID J:5426]

Sakuragawa N; Yokoyama Y. 1994. Clinical and molecular genetics of inherited hydrocephalus Cong Anom 34:303-10.  [MGI Ref ID J:24172]

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

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, heterozygotes may be bred to wildtype siblings or to FVB/NJ inbred mice. Homozygous mice exhibit lethality around 4-5 weeks of age.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	001800 FVB/NJ
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory's Genotype Promise

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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