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Strain Name:

B6C3Fe a/a-Napahyh/J

Stock Number:

001035

Availability:

Repository-Cryopreserved

Price and Supply Information

General Terms and Conditions

Former Name      B6C3Fe a/a-hyh/J    (Changed: 15-DEC-04 )
Genes & Alleles   Napa;   Napahyh;   a;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Specieslaboratory mouse
GenerationN19

Strain 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.

Strain 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.

Mammalian Phenotype Terms 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
      • 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 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
  • abnormal neuronal 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 morphology (MGI Ref ID J:48903)
    • the canal of the spinal cord is closed

Gene & Allele Details

Allele Symbol Napahyh
Allele Name hydrocephaly with hop gait
Common Name(s) hyh;
Strain of OriginC57BL/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

Related Strains

Strains carrying   a allele
003879   B10;TFLe-a/a T tf/+ tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
000001   B6.C3 A/a Mgrn1md/J
000785   B6;D2-a Es1e/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
002807   B6C3Fe a/a-Meox2fla/J
000224   B6C3Fe a/a-Scyl1mdf/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000231   B6C3Fe a/a-Csf1op/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000506   B6C3Fe a/a-Qkqk/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
000230   B6C3Fe a/a-Tcirg1oc/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
001750   B6C3Fe a/a-XsJ/J
000624   B6C3Fe a/a-anx/J
003020   B6C3Fe a/a-dep/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001924   B6EiC3Sn a/A-Ts(1716)65Dn
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Sisi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
000317   STOCK a/a Egfrwa2/J
000302   STOCK a/a MitfMi-wh +/+ Itpr1opt/J
000286   STOCK a/a Myo5ad fd/+ +/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b sks/Tyrp1b +/J
000281   STOCK a/a ma ft/ma ft/J
000312   STOCK stb + a/+ Fignfi a/J
000596   STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J
000970   STOCK T(2;16)28H A/T(2;16)28H a/J
000590   STOCK T(2;4)1Sn a/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
000623   TR/DiEiJ
View Strains carrying   a     (102 strains)

Strains carrying other alleles of a
003301   (C57BL/6J x C3H-Eya1bor)F1/J
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Pldnpa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
000593   B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000502   B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/J
000507   B6 x B6EiC3 a/A-Otcspf/J
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000552   B6-Aw-J-EdaTa-6J.Cg-Sxr
001730   B6-Aw-J-EdaTa-6J.Cg-Sxrb Hya-/J
000841   B6-Aw-J.CBy-EdaTa-By/J
001809   B6-Aw-J.Cg-EdaTa-6J +/+ ArTfm/J
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
000017   B6.C3Fe-Avy/J
000628   B6.CE-A Amy1b Amy2b/J
005505   B6.Cg-Ay Slc7a11sut/LmLlp
000021   B6.Cg-Ay/J
001572   B6.Cg-am-J/J
100409   B6129PF1/J-Aw-J/Aw
004200   B6;CBACa Aw-J/A-Npr2cn-2J/J
000505   B6C3 Aw-J/A-Mutedmu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000065   B6C3Fe a/a-we Pax1un at/J
000314   B6CBACa Aw-J/A-EdaTa/J-XO
000501   B6CBACa Aw-J/A-Aifm1Hq/J
001046   B6CBACa Aw-J/A-Grid2Lc/J
000500   B6CBACa Aw-J/A-Gs/J
002703   B6CBACa Aw-J/A-Hydinhy3/J
000247   B6CBACa Aw-J/A-Kcnj6wv/J
000287   B6CBACa Aw-J/A-Plp1jp EdaTa/J
000515   B6CBACa Aw-J/A-SfnEr/J
000242   B6CBACa Aw-J/A-spc/J
000288   B6CBACa Aw-J/A-we a Mafbkr/J
001201   B6CBACaF1/J-Aw-J/A
001752   B6CBCa Aw-J/A-T(7;15)9H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000200   C3FeB6 A/Aw-J-Ankank/J
000638   C3FeB6 A/Aw-J-Spnb4qv-J/J
001203   C3FeB6F1/J A/Aw-J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000569   C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J
000051   C57BL/6J-Aw-J/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
View Strains carrying other alleles of a     (67 strains)

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 Mortality (Homozygous)

Neurobiology Research
Ataxia (Movement) Defects
Cortical Defects
Neurodevelopmental Defects

References

Additional References

Price and Supply Information

Strain Name: B6C3Fe a/a-Napahyh/J
Stock Number: 001035

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:

*Pricing for Shipping Destination selected:

        International

Price(s) in US dollars ($)
Cryorecovery Fee $2470.00

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery of Strains Needing Progeny Testing.
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 untested males and two untested females (two pairs) will be recovered, 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 overall recovery time to approximately 25 weeks. However, all pups recovered will be sent.

Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified 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. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845.

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.
Genomic DNA is available for this strain from the Mouse DNA Resource.

LicensingSee General Terms and Conditions below  

General Terms and Conditions

View JAX® Mice & Services Conditions of Use.

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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