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Former Names B6C3Fe a/a-hyh/J (Changed: 15-DEC-04 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N19
Generation DefinitionsDescription
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 in 1981 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.
Strains carrying a allele
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View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
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
- mortality/aging
- premature death
- behavior/neurological phenotype
- abnormal gait
- hop gait in all homozygotes (MGI Ref ID J:14015)
- abnormal motor coordination/ balance (MGI Ref ID J:12732)
- circling
- run in circles (MGI Ref ID J:12732)
- craniofacial phenotype
- domed cranium
- domed head becomes apparent in second week of life (MGI Ref ID J:12732)
- hearing/vestibular/ear phenotype
- *normal* hearing/vestibular/ear phenotype
- hearing is normal (MGI Ref ID J:12732)
- skeleton phenotype
- domed cranium
- domed head becomes apparent in second week of life (MGI Ref ID J:12732)
- nervous system phenotype
- abnormal brain ventricle/choroid plexus morphology (MGI Ref ID J:12732)
- abnormal brain ependyma morphology
- ependymal detachment starts at E12 in the 4th ventricle floor (MGI Ref ID J:74193)
- at E14 ependymal detachment seen in the floor of the cerebral aqueduct and ventrolateral walls of third ventricle (MGI Ref ID J:74193)
- at E15 ependymal detachment starts in lateral ventricles and central canal of spinal cord (MGI Ref ID J:74193)
- abnormal third ventricle morphology
- by E14.5 the third ventricle is displaced dorsally (MGI Ref ID J:88495)
- dilated third ventricle
- develops with age and worsens over time (MGI Ref ID J:12732)
- dilated lateral ventricles
- hydroencephaly
- abnormal forebrain morphology (MGI Ref ID J:12732)
- abnormal cerebral cortex morphology
- abnormal corpus callosum morphology
- corpus callosum fails to cross the midline (MGI Ref ID J:12732)
- abnormal cortical marginal zone morphology
- heterotopic neurons are found in the marginal zone (MGI Ref ID J:88495)
- abnormal cortical ventricular zone morphology
- at E14.5, heterotopic neurons are found in the ventricular zone (MGI Ref ID J:88495)
- abnormal third ventricle morphology
- by E14.5 the third ventricle is displaced dorsally (MGI Ref ID J:88495)
- dilated third ventricle
- develops with age and worsens over time (MGI Ref ID J:12732)
- dilated lateral ventricles
- abnormal hindbrain morphology (MGI Ref ID J:12732)
- abnormal cerebellum vermis morphology
- distorted rostral vermis of cerebellum (MGI Ref ID J:12732)
- abnormal midbrain morphology (MGI Ref ID J:86347)
- abnormal neuron specification
- homozygotes have an excess of early-born neurons and few late-born neurons in the cerebral cortex (MGI Ref ID J:88495)
- this is the result of precocious generation of neurons and premature depletion of progenitor cells (MGI Ref ID J:88495)
- apical vesicle localization is severely abnormal in mutants (MGI Ref ID J:88495)
- abnormal spinal cord central canal morphology
- the canal of the spinal cord is closed (MGI Ref ID J:48903)
- abnormal spinal cord ependymal layer morphology
- at E15 ependymal detachment starts in lateral ventricles and central canal of spinal cord (MGI Ref ID J:74193)
View Research Applications
Research Applications
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 Lethality
Homozygous
Neurobiology Research
Ataxia (Movement) Defects
Cortical Defects
Neurodevelopmental Defects
| 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:156559] [MGI Ref ID J:88183] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. [MGI Ref ID J:16984] [MGI Ref ID J:24934] | ||
Genotyping Protocols
Napahyh Pyro, Pyrosequencing
Napahyh, End Point Analysis
Helpful Links
Genotyping resources and troubleshooting
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 relateda 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]
Batiz LF; Roales-Bujan R; Rodriguez-Perez LM; Matas IM; Paez P; Roque M; Jimenez AJ; Ramos C; Perez-Figares JM. 2009. A simple PCR-based genotyping method for M105I mutation of alpha-SNAP enhances the study of early pathological changes in hyh phenotype. Mol Cell Probes 23(6):281-90. [PubMed: 19615440] [MGI Ref ID J:156559]
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]
Burgalossi A; Jung S; Meyer G; Jockusch WJ; Jahn O; Taschenberger H; O'Connor VM; Nishiki T; Takahashi M; Brose N; Rhee JS. 2010. SNARE protein recycling by alphaSNAP and betaSNAP supports synaptic vesicle priming. Neuron 68(3):473-87. [PubMed: 21040848] [MGI Ref ID J:167753]
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]
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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]
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Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $1980.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. 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).
| Pricing for International shipping destinations |
|
![]() |
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2574.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. 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).
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|
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.
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Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.