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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 B6C3Fe a/a-hyh/J (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N19 Description
Although no overt phenotype is appearant in newborn hyh mice, they have dilated lateral ventricles. By 2 weeks of age, an outward phenotype of a domed head and a hop gait is apparent. Dissection and histological examination reveal "hydrocephalus of lateral and third ventricles and of the caudal aspects of the cerebreal aquiduct" increasing in severity with age (Bronson et al., 1990). Homozygotes have a decreased lifespan usually dying before 2 months of age. Some homozygotes will live for several months, but usually will not breed.Development
The hyh mutation arose spontaneously on the C57BL/10J background and was sibling mated by progeny tested heterozygote x heterozygote for 11 generations and was then outcrossed onto a B6C3Fe-a/a background. This strain is maintained by ovarian transplant-backcross-intercross using homozygous ovary donors whose hosts are bred with B6C3Fe-a/a F1 males and the obligate heterozygous offspring are then sibling bred, generating homozygous female ovary donors.
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Napahyh/Napahyh
either: C57BL/10J or (C57BL/6J x C3HeB/FeJ-a/a)F1
- life span-post-weaning/aging
- premature death (MGI Ref ID J:14015)
- lethal within 2 months of age on C57BL/10J background
- survival better in (C57BL/6J X C3HeB/FeJ-a/a)F1 and occasionally breed survival better in (C57BL/6J X C3HeB/FeJ-a/a)F1 and occasionally breed
- behavior/neurological phenotype
- abnormal gait (MGI Ref ID J:14015)
- hop gait in all homozygotes
- abnormal motor coordination/ balance (MGI Ref ID J:12732)
- impaired balance (MGI Ref ID J:12732)
- circling (MGI Ref ID J:12732)
- run in circles
- impaired righting response (MGI Ref ID J:12732)
- craniofacial phenotype
- domed skull (MGI Ref ID J:12732)
- domed head becomes apparent in second week of life
- hearing/vestibular/ear phenotype
- *normal* hearing/vestibular/ear phenotype (MGI Ref ID J:12732)
- hearing is normal
- circling (MGI Ref ID J:12732)
- run in circles
- skeleton phenotype
- domed skull (MGI Ref ID J:12732)
- domed head becomes apparent in second week of life
- nervous system phenotype
- abnormal brain ventricle/choroid plexus morphology (MGI Ref ID J:12732)
- abnormal brain ventricle morphology (MGI Ref ID J:88495)
- by E14.5 the third ventricle is displaced dorsally
- heterotopic neurons are found in the ventricular zone
- abnormal cerebral aqueduct (MGI Ref ID J:86347)
- rostral region is stenotic at birth
- mid segment becomes dilated in first week of life
- caudal region becomes obliterated during the first 2 weeks of life
- dilated lateral ventricles (MGI Ref ID J:12732)
- at birth
- becomes worse with age
- dilated third ventricle (MGI Ref ID J:12732)
- develops with age and worsens over time
- abnormal ependyma morphology (MGI Ref ID J:74193)
- ependymal detachment starts at E12 in the 4th ventricle floor
- at E14 ependymal detachment seen in the floor of the cerebral aqueduct and ventrolateral walls of third ventricle
- at E15 ependymal detachment starts in lateral ventricles and central canal of spinal cord
- hydroencephaly (MGI Ref ID J:86347)
- moderate hydrocephaly at birth
- severe hydrocephaly develops after the closure of the caudal region of the cerebral aqueduct
- abnormal forebrain morphology (MGI Ref ID J:12732)
- abnormal cerebral cortex morphology (MGI Ref ID J:88495)
- by E12.5 the floor plate of the mutant forebrain is noticeably wider
- on E14.5, E16.5, and P0 the cerebral cortex is smaller in homozygotes
- abnormal corpus callosum morphology (MGI Ref ID J:12732)
- corpus callosum fails to cross the midline
- abnormal cortical marginal zone morphology (MGI Ref ID J:88495)
- heterotopic neurons are found in the marginal zone
- abnormal hindbrain morphology (MGI Ref ID J:12732)
- abnormal vermis morphology (MGI Ref ID J:12732)
- distorted rostral vermis of cerebellum
- abnormal midbrain morphology (MGI Ref ID J:86347)
- abnormal neuron specification (MGI Ref ID J:88495)
- homozygotes have an excess of early-born neurons and few late-born neurons in the cerebral cortex
- this is the result of precocious generation of neurons and premature depletion of progenitor cells
- apical vesicle localization is severely abnormal in mutants
- abnormal spinal cord central canal morphology (MGI Ref ID J:48903)
- the canal of the spinal cord is closed
This mouse can be used to support research in many areas including:Napahyh related
Cell Biology Research
Vesicular Trafficking
Developmental Biology Research
Growth Defects
Internal/Organ Defects
brain
Neurodevelopmental Defects
Postnatal Mortality
Homozygous
Neurobiology Research
Ataxia (Movement) Defects
Cortical Defects
Neurodevelopmental Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Napahyh | ||
|---|---|---|---|
| Allele Name | hydrocephaly with hop gait | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | hyh; | ||
| Strain of Origin | C57BL/10J | ||
| Gene Symbol and Name | Napa, N-ethylmaleimide sensitive fusion protein attachment protein alpha | ||
| Chromosome | 7 | ||
| Gene Common Name(s) | 1500039N14Rik; AW209189; RA81; RIKEN cDNA 1500039N14 gene; SNAPA; SNARE; a-SNAP; alpha-SNAP; expressed sequence AW209189; hydrocephaly with hop gait; hyh; | ||
| Molecular Note | The G to A transition identified in exon 4 results in the substitution of the conserved methionine at amino acid residue 105 with an isoleucine. Transcript expression levels were normal as determined by Northern blot analysis. Presence of the mutationwas confirmed by RT-PCR sequence analysis of mRNA from brain tissue. Western blot analysis indicated that the mutant protein is about 40% less abundant in homozygous mutant mice than is the normal protein in wild-type mice. [MGI Ref ID J:88183] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Bronson RT; Lane PW. 1990. Hydrocephalus with hop gait (hyh): a new mutation on chromosome 7 in the mouse. Brain Res Dev Brain Res 54(1):131-6. [PubMed: 2364541] [MGI Ref ID J:12732]
Chae TH; Allen KM; Davisson MT; Sweet HO; Walsh CA. 2002. Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Mamm Genome 13(5):239-44. [PubMed: 12016511] [MGI Ref ID J:76561]
Chae TH; Kim S; Marz KE; Hanson PI; Walsh CA. 2004. The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet 36(3):264-70. [PubMed: 14758363] [MGI Ref ID J:88495]
Hong HK; Chakravarti A; Takahashi JS. 2004. The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. Proc Natl Acad Sci U S A 101(6):1748-53. [PubMed: 14755058] [MGI Ref ID J:88183]
Napahyh relatedBatiz LF; De Blas GA; Michaut MA; Ramirez AR; Rodriguez F; Ratto MH; Oliver C; Tomes CN; Rodriguez EM; Mayorga LS. 2009. Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction. PLoS ONE 4(3):e4963. [PubMed: 19305511] [MGI Ref ID J:147464]
Batiz LF; Paez P; Jimenez AJ; Rodriguez S; Wagner C; Perez-Figares JM; Rodriguez EM. 2006. Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP. Neurobiol Dis 23(1):152-68. [PubMed: 16697210] [MGI Ref ID J:111242]
Bronson RT; Lane PW. 1990. Hydrocephalus with hop gait (hyh): a new mutation on chromosome 7 in the mouse. Brain Res Dev Brain Res 54(1):131-6. [PubMed: 2364541] [MGI Ref ID J:12732]
Chae TH; Allen KM; Davisson MT; Sweet HO; Walsh CA. 2002. Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Mamm Genome 13(5):239-44. [PubMed: 12016511] [MGI Ref ID J:76561]
Chae TH; Kim S; Marz KE; Hanson PI; Walsh CA. 2004. The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet 36(3):264-70. [PubMed: 14758363] [MGI Ref ID J:88495]
Ferland RJ; Batiz LF; Neal J; Lian G; Bundock E; Lu J; Hsiao YC; Diamond R; Mei D; Banham AH; Brown PJ; Vanderburg CR; Joseph J; Hecht JL; Folkerth R; Guerrini R; Walsh CA; Rodriguez EM; Sheen VL. 2009. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet 18(3):497-516. [PubMed: 18996916] [MGI Ref ID J:143546]
Hong HK; Chakravarti A; Takahashi JS. 2004. The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. Proc Natl Acad Sci U S A 101(6):1748-53. [PubMed: 14755058] [MGI Ref ID J:88183]
Hong W. 2005. SNAREs and traffic. Biochim Biophys Acta 1744(2):120-44. [PubMed: 15893389] [MGI Ref ID J:100512]
Jimenez AJ; Tome M; Paez P; Wagner C; Rodriguez S; Fernandez-Llebrez P; Rodriguez EM; Perez-Figares JM. 2001. A programmed ependymal denudation precedes congenital hydrocephalus in the hyh mutant mouse. J Neuropathol Exp Neurol 60(11):1105-19. [PubMed: 11706940] [MGI Ref ID J:74193]
Lane PW. 1985. Hydrocephaly with hop gait (hyh) Mouse News Lett 73:18. [MGI Ref ID J:14015]
Paez P; Batiz LF; Roales-Bujan R; Rodriguez-Perez LM; Rodriguez S; Jimenez AJ; Rodriguez EM; Perez-Figares JM. 2007. Patterned neuropathologic events occurring in hyh congenital hydrocephalic mutant mice. J Neuropathol Exp Neurol 66(12):1082-92. [PubMed: 18090917] [MGI Ref ID J:133714]
Perez-Figares JM; Jimenez AJ; Perez-Martin M; Fernandez-Llebrez P; Cifuentes M; Riera P; Rodriguez S; Rodriguez EM. 1998. Spontaneous congenital hydrocephalus in the mutant mouse hyh. Changes in the ventricular system and the subcommissural organ. J Neuropathol Exp Neurol 57(2):188-202. [PubMed: 9600211] [MGI Ref ID J:48903]
Wagner C; Batiz LF; Rodriguez S; Jimenez AJ; Paez P; Tome M; Perez-Figares JM; Rodriguez EM. 2003. Cellular mechanisms involved in the stenosis and obliteration of the cerebral aqueduct of hyh mutant mice developing congenital hydrocephalus. J Neuropathol Exp Neurol 62(10):1019-40. [PubMed: 14575238] [MGI Ref ID J:86347]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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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.Ordering and Purchasing Information
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