Strain Name:

B6EiC3Sn a/A-Cacnb4lh/J

Stock Number:

000504

Availability:

Repository-Cryopreserved

Description

Strain Information

Type Mutant Strain; Spontaneous Mutation;
Specieslaboratory mouse
GenerationN27

Appearance
black, ataxic
Related Genotype: a/a Cacnb4lh/Cacnb4lh

agouti, ataxic
Related Genotype: A/? Cacnb4lh/Cacnb4lh

black, unaffected
Related Genotype: a/a Cacnb4lh/+ or a/a +/?

agouti, unaffected
Related Genotype: A/? Cacnb4lh/+ or A/? +/?

Description
Mice homozygous for the lethargic spontaneous mutation (Cacnb4lh) are first recognizable at 15 days by their lethargic behavior with gait instability and occasional seizures. The seizures resemble human petit mal seizures. No pathological changes were found in the CNS or in skeletal muscles, but peripheral motor nerves show reduced conduction velocity and prolonged distal latency. There is early thymic involution at 3 to 4 weeks in Cacnb4lh homozygotes, accompanied by decreased lymphocyte count, decreased cell-mediated immunity, and increased levels of serum IgG1. The defects in the immune system tend to disappear by 2 months of age in mice that survive. In addition to neurological and immunological defects, homozygous lethargic mice show pituitary-adrenal hypercorticism. Homozygotes are smaller and weaker than their normal littermates and often die before 2 months old. Survivors of both sexes may breed, but their reproductivity is low.

Control Information

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls

Related Strains

View Strains carrying   A     (17 strains)

Strains carrying other alleles of Cacnb4
004951   C3HeB/FeJ-Cacnb4lh-3J/J
View Strains carrying other alleles of Cacnb4     (1 strain)

Strains carrying other alleles of a
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
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
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
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
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
000001   B6.C3 A/a Mgrn1md/J
000203   B6.C3-Aiy/a/J
001572   B6.C3-am-J/J
000017   B6.C3Fe-Avy/J
005505   B6.Cg-Ay Slc7a11sut/LmLlp
000021   B6.Cg-Ay/J
100409   B6129PF1/J-Aw-J/Aw
004200   B6;CBACa Aw-J/A-Npr2cn-2J/J
000785   B6;D2-a Es1e/J
000505   B6C3 Aw-J/A-Mutedmu/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
001035   B6C3Fe a/a-Napahyh/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
000065   B6C3Fe a/a-we Pax1un at/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
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
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
000200   C3FeB6 A/Aw-J-Ankank/J
000638   C3FeB6 A/Aw-J-Spnb4qv-J/J
001203   C3FeB6F1/J A/Aw-J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
001886   C3HeB/FeJLe a/a-gnd/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/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
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
002468   KK.Cg-Ay/J
000262   LS/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
001427   STOCK Aw us/J
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 other alleles of a     (156 strains)

Phenotype

Phenotype Information

Mammalian Phenotype Terms assigned by genotype

Cacnb4lh/Cacnb4lh

        B6EiC3Sn a/A-Cacnb4lh/J
  • immune system phenotype
  • abnormal CD4-positive T cell physiology (MGI Ref ID J:115345)
    • initial peak and plateau calcium responses are attenuated compared to in wild-type mice
  • abnormal Peyer's patch germinal center morphology (MGI Ref ID J:5281)
    • absent
  • abnormal interleukin secretion (MGI Ref ID J:115345)
    • IL-4 production is reduced
    • decreased interleukin-2 secretion (MGI Ref ID J:115345)
      • TCR-mediated IL-2 production is partially inhibited
  • abnormal lymph node morphology (MGI Ref ID J:5281)
    • between 18 and 35 days of age, mice exhibit fewer lymphatic follicles compared to wild-type mice
    • enlarged lymph nodes (MGI Ref ID J:5281)
      • mice older than 5 months exhibit enlarged lymph nodes compared to wild-type mice
  • abnormal thymus development (MGI Ref ID J:5281)
    • mice undergo thymus involution
  • abnormal thymus lobule morphology (MGI Ref ID J:5281)
    • the boundary between the cortex and medulla is not visible as in wild-type mice
  • decreased Peyer's patch number (MGI Ref ID J:5281)
  • decreased interferon-gamma secretion (MGI Ref ID J:115345)
  • decreased lymphocyte cell number (MGI Ref ID J:5281)
    • in the thymus and spleen
    • decreased double-positive T cell number (MGI Ref ID J:115345)
      • in mice older than 2 weeks of age when the onset of neuropathy occurs
      • however, prior to 2 weeks of age mice exhibit normal T cell development
  • small Peyer's patches (MGI Ref ID J:5281)
  • small spleen (MGI Ref ID J:5281)
    • between 15 days and 10 months of age
  • small thymus (MGI Ref ID J:5281)
    • between 26 and 40 days of age
  • growth/size phenotype
  • cachexia (MGI Ref ID J:5281)
    • between 26 and 40 days of age
  • digestive/alimentary phenotype
  • diarrhea (MGI Ref ID J:5281)
    • between 26 and 40 days of age
  • vision/eye phenotype
  • abnormal eye electrophysiology (MGI Ref ID J:136113)
    • electroretinograms generated by retinal pigment epithelial cells are reduced compared to in wild-type mice
    • maximum amplitude of the light peak is reduced and overall sensitivity is decreased compared to in wild-type mice
  • hematopoietic system phenotype
  • abnormal thymus development (MGI Ref ID J:5281)
    • mice undergo thymus involution
  • abnormal thymus lobule morphology (MGI Ref ID J:5281)
    • the boundary between the cortex and medulla is not visible as in wild-type mice
  • decreased lymphocyte cell number (MGI Ref ID J:5281)
    • in the thymus and spleen
    • decreased double-positive T cell number (MGI Ref ID J:115345)
      • in mice older than 2 weeks of age when the onset of neuropathy occurs
      • however, prior to 2 weeks of age mice exhibit normal T cell development
  • small spleen (MGI Ref ID J:5281)
    • between 15 days and 10 months of age
  • small thymus (MGI Ref ID J:5281)
    • between 26 and 40 days of age

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

Cacnb4lh/Cacnb4lh

        involves: BALB/cGn * C3H/HeSnJ * C57BL/6JEi
  • nervous system phenotype
  • *normal* nervous system phenotype (MGI Ref ID J:121463)
    • synaptic electrophysiology including neurotransmitter release and end plate potentials, as well as responses to channel inhibitors is not different from wild-type NMJs
    • abnormal CNS synaptic transmission (MGI Ref ID J:106959)
      • peak current densities of low voltage-activated (LVA) calcium channels in thalamocortical neurons at membrane potential of -50 mV are increased by 51% compared to control
      • peak current densities of high voltage calcium channels (HVA) in TC neurons are similar to wild-type
    • abnormal brain wave pattern (MGI Ref ID J:79139)
      • EEG of saline-treated mice display frequent polyspike discharges
      • mice exhibit bilaterally synchronous electrographic bursts (seizures) that last 1.5 s with a frequency of 127 per hour
    • abnormal motor neuron morphology (MGI Ref ID J:121463)
      • synaptic electrophysiology including neurotransmitter release and end plate potentials, as well as responses to channel inhibitors is not different from wild-type NMJs
    • abnormal neuromuscular synapse morphology (MGI Ref ID J:121463)
      • neuromuscular junction area (area staining for acetylcholine receptors) in ~38% smaller relative to wild-type mice (277 um2 vs 446 um2)
    • seizures (MGI Ref ID J:1484)
      • mice exhibit absence seizures
      • seizures are increased by treatment with GAB agonists and decreased by treatment with GABA antagonists
      • clonic seizures (MGI Ref ID J:79139)
        • mice have attacks with clonic movements of the limbs most apparent at 4 weeks of age
      • tonic seizures (MGI Ref ID J:79139)
        • mice show periods of tonic extension or retraction of the limbs at 4 weeks of age
  • behavior/neurological phenotype
  • abnormal motor capabilities/coordination/movement (MGI Ref ID J:79139)
    • transient periods of severe motor disability are superimposed on the more minor abnormalities
    • abnormal posture (MGI Ref ID J:79139)
      • mice show periods of abnormal flexion or extension of the trunk most apparent at 4 weeks of age
    • ataxia (MGI Ref ID J:79139)
      • mice show wide stance, imprecise limb placement, poor timing and interlimb coordination, and a staggering gait, all characteristic of ataxia
    • circling (MGI Ref ID J:79139)
      • mice display circling, becoming less frequent by 5-6 weeks of age
    • hypoactivity (MGI Ref ID J:79139)
      • mice show transient periods of reduced locomotor activity when tested in photocell chambers
    • impaired coordination (MGI Ref ID J:79139)
      • mice perform very poorly in rotarod tests, falling off the rod whereas wild-type remain on for ~length of test
    • impaired righting response (MGI Ref ID J:79139)
      • mice tend to fall and are unable to regain upright position, becoming less frequent by 5-6 weeks of age
  • seizures (MGI Ref ID J:1484)
    • mice exhibit absence seizures
    • seizures are increased by treatment with GAB agonists and decreased by treatment with GABA antagonists
    • clonic seizures (MGI Ref ID J:79139)
      • mice have attacks with clonic movements of the limbs most apparent at 4 weeks of age
    • tonic seizures (MGI Ref ID J:79139)
      • mice show periods of tonic extension or retraction of the limbs at 4 weeks of age
  • muscle phenotype
  • muscle spasms (MGI Ref ID J:79139)
    • mice display facial twitching, becoming less prominent by 5-6 weeks of age
  • hearing/vestibular/ear phenotype
  • circling (MGI Ref ID J:79139)
    • mice display circling, becoming less frequent by 5-6 weeks of age
  • homeostasis/metabolism phenotype
  • decreased sensitivity to xenobiotics (MGI Ref ID J:1484)
    • mice are insensitive to phenytoin and carbamazepine

Cacnb4lh/Cacnb4lh

        BALB/cGn-Cacnb4lh
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:12166)
    • mice exhibit high mortality rates between 3 and 4 weeks of age
  • reproductive system phenotype
  • absent corpus luteum (MGI Ref ID J:12166)
  • reduced fertility (MGI Ref ID J:12166)
    • mice exhibit reduced reproductivity
  • immune system phenotype
  • abnormal thymus development (MGI Ref ID J:12166)
    • mice undergo thymus involution
  • increased length of allograft survival (MGI Ref ID J:5766)
    • between 15 to 30 days of age, mice fail to reject skin grafts as wild-type mice do
    • however, by 45 days of age graft rejection is normal
  • nervous system phenotype
  • pituitary gland hyperplasia (MGI Ref ID J:12166)
    • pituitary glands exhibit an increase in cellular population density compared to in wild-type pituitaries
  • behavior/neurological phenotype
  • abnormal behavior (MGI Ref ID J:28465)
    • mice sit up with front feet contracted for several minutes
    • abnormal fear/anxiety-related behavior (MGI Ref ID J:28465)
      • mice appear nervous
    • abnormal locomotor activation (MGI Ref ID J:28465)
      • mice exhibit difficulty in moving forward and make long pauses between movements, often hunch the back and raise first the front foot then the hind foot
  • endocrine/exocrine gland phenotype
  • absent corpus luteum (MGI Ref ID J:12166)
  • pituitary gland hyperplasia (MGI Ref ID J:12166)
    • pituitary glands exhibit an increase in cellular population density compared to in wild-type pituitaries
  • growth/size phenotype
  • postnatal growth retardation (MGI Ref ID J:12166)
  • hematopoietic system phenotype
  • abnormal thymus development (MGI Ref ID J:12166)
    • mice undergo thymus involution

Cacnb4lh/Cacnb4lh

        involves: BALB/cGn
  • behavior/neurological phenotype
  • abnormal gait (MGI Ref ID J:28466)
    • at 14 to 16 days of age, mice exhibit a mild gait instability
  • convulsive seizures (MGI Ref ID J:28466)
    • mice exhibit clonic and/or tonic seizures
    • excitement during seizure worsens the severity of the seizure
    • however, gentle handling quells the seizures until released
    • sometimes mice exhibit a Jacksonian march during seizures
  • lethargy (MGI Ref ID J:28466)
    • when removed from a swim test mice exhibit slowed responses with hindlimbs appearing weak and he animal unable to ascend a 45 degree incline for 10 to 15 minutes
  • nervous system phenotype
  • abnormal nerve conduction (MGI Ref ID J:6556)
    • mice exhibit adult motor nerve conduction velocities at 3 months of again instead of 5 as in wild-type mice
    • reduced nerve conduction velocity (MGI Ref ID J:6556)
      • peripheral motor nerves exhibit reduced conduction velocity and prolonged distal latency
  • convulsive seizures (MGI Ref ID J:28466)
    • mice exhibit clonic and/or tonic seizures
    • excitement during seizure worsens the severity of the seizure
    • however, gentle handling quells the seizures until released
    • sometimes mice exhibit a Jacksonian march during seizures
  • immune system phenotype
  • increased IgG1 level (MGI Ref ID J:5883)

Research Applications

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

Cacnb4lh related

Cell Biology Research
Channel and Transporter Defects (calcium)

Endocrine Deficiency Research
Adrenal Cortex Defects
Hypothalamus/Pituitary Defects

Immunology and Inflammation Research
Immunodeficiency Associated with Other Defects

Internal/Organ Research
Adrenal Cortex Defects

Neurobiology Research
Ataxia (Movement) Defects
Channel and Transporter Defects (calcium)
Epilepsy

Genes & Alleles

Gene & Allele Information

Allele Symbol A
Allele Name wild type
Gene Symbol and Name a, nonagouti
Chromosome 2
Gene Common Name(s) AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor;
 
Allele Symbol Cacnb4lh
Allele Name lethargic
Common Name(s) beta4lh; lh;
Strain of OriginBALB/cGn
Gene Symbol and Name Cacnb4, calcium channel, voltage-dependent, beta 4 subunit
Chromosome 2
Gene Common Name(s) 3110038O15Rik; CAB4; CACNLB4; Cchb4; EA5; EJM; RIKEN cDNA 3110038O15 gene; calcium channel, B4 subunit; lethargic; lh;
Molecular Note A four bp insertion that disrupts the consensus 5' splice site of intron A/B was identified. Reduced levels of transcripts are produced from this allele and are present at approximately 20% of the normal levels in homozygous mice. [MGI Ref ID J:38214]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Burgess DL; Jones JM; Meisler MH; Noebels JL. 1997. Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 88(3):385-92. [PubMed: 9039265]  [MGI Ref ID J:38214]

Additional References

Dung HC; Swigart RH. 1972. Histo-pathologic observations of the nervous and lymphoid tissues of lethargic mutant mice. Tex Rep Biol Med 30(1):23-39. [PubMed: 5037658]  [MGI Ref ID J:5281]

Lin FH; Cao Z; Hosford DA. 1993. Increased number of GABAB receptors in the lethargic (lh/lh) mouse model of absence epilepsy. Brain Res 608(1):101-6. [PubMed: 8388308]  [MGI Ref ID J:4388]

A related

Czyzyk TA; Sikorski MA; Yang L; McKnight GS. 2008. Disruption of the RIIbeta subunit of PKA reverses the obesity syndrome of Agouti lethal yellow mice. Proc Natl Acad Sci U S A 105(1):276-81. [PubMed: 18172198]  [MGI Ref ID J:131039]

Jackson IJ; Budd PS; Keighren M; McKie L. 2007. Humanized MC1R transgenic mice reveal human specific receptor function. Hum Mol Genet 16(19):2341-8. [PubMed: 17652101]  [MGI Ref ID J:129904]

Cacnb4lh related
Aizawa M; Ito Y; Fukuda H. 1997. Pharmacological profiles of generalized absence seizures in lethargic, stargazer and gamma-hydroxybutyrate-treated model mice. Neurosci Res 29(1):17-25. [PubMed: 9293489]  [MGI Ref ID J:43226]

Badou A; Basavappa S; Desai R; Peng YQ; Matza D; Mehal WZ; Kaczmarek LK; Boulpaep EL; Flavell RA. 2005. Requirement of voltage-gated calcium channel beta4 subunit for T lymphocyte functions. Science 307(5706):117-21. [PubMed: 15637280]  [MGI Ref ID J:95687]

Badou A; Jha MK; Matza D; Mehal WZ; Freichel M; Flockerzi V; Flavell RA. 2006. Critical role for the beta regulatory subunits of Cav channels in T lymphocyte function. Proc Natl Acad Sci U S A 103(42):15529-34. [PubMed: 17028169]  [MGI Ref ID J:115345]

Ball SL; Powers PA; Shin HS; Morgans CW; Peachey NS; Gregg RG. 2002. Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer. Invest Ophthalmol Vis Sci 43(5):1595-603. [PubMed: 11980879]  [MGI Ref ID J:80080]

Burgess DL; Biddlecome GH; McDonough SI; Diaz ME; Zilinski CA; Bean BP; Campbell KP; Noebels JL. 1999. beta subunit reshuffling modifies N- and P/Q-type Ca2+ channel subunit compositions in lethargic mouse brain. Mol Cell Neurosci 13(4):293-311. [PubMed: 10328888]  [MGI Ref ID J:57712]

Caddick SJ; Wang C; Fletcher CF; Jenkins NA; Copeland NG; Hosford DA. 1999. Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami. J Neurophysiol 81(5):2066-74. [PubMed: 10322048]  [MGI Ref ID J:56225]

Devanagondi R; Egami K; LeDoux MS; Hess EJ; Jinnah HA. 2007. Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice. Neurobiol Dis 27(3):249-57. [PubMed: 17561408]  [MGI Ref ID J:134825]

Dickie MM. 1964. Lethargic (lh) Mouse News Lett 30:31.  [MGI Ref ID J:28465]

Dung HC. 1981. 2. Lethargic mice. In: Immunologic Defects in Laboratory Animals. Plenum Press.  [MGI Ref ID J:28475]

Dung HC. 1977. Deficiency in the thymus-dependent immunity in lethargic mutant mice. Transplantation 23(1):39-43. [PubMed: 13525]  [MGI Ref ID J:5766]

Dung HC. 1975. Growth retardation, high mortality, and low reproductivity of neurological mutant mice. Anat Rec 181:347-348 (Abstr.).  [MGI Ref ID J:12166]

Dung HC; Lawson RL; Stevens M. 1977. A study of the increased serum level of IgG1 in 'lethargic' mice combined with a depressed thymus-dependent lymphoid system. J Immunogenet 4(4):287-93. [PubMed: 410895]  [MGI Ref ID J:5883]

Dung HC; Swigart RH. 1972. Histo-pathologic observations of the nervous and lymphoid tissues of lethargic mutant mice. Tex Rep Biol Med 30(1):23-39. [PubMed: 5037658]  [MGI Ref ID J:5281]

Herring JM; Dung HC; Yoo JH; Yu J. 1981. Chronological studies of peripheral motor nerve conduction in lethargic mice. Electromyogr Clin Neurophysiol 21(2-3):121-34. [PubMed: 7261997]  [MGI Ref ID J:6556]

Hosford DA; Clark S; Cao Z; Wilson WA Jr; Lin FH; Morrisett RA; Huin A. 1992. The role of GABAB receptor activation in absence seizures of lethargic (lh/lh) mice. Science 257(5068):398-401. [PubMed: 1321503]  [MGI Ref ID J:1484]

Hosford DA; Lin FH; Kraemer DL; Cao Z; Wang Y; Wilson JT Jr. 1995. Neural network of structures in which GABAB receptors regulate absence seizures in the lethargic (lh/lh) mouse model. J Neurosci 15(11):7367-76. [PubMed: 7472490]  [MGI Ref ID J:29786]

Hosford DA; Wang Y; Liu CC; Snead OC 3rd. 1995. Characterization of the antiabsence effects of SCH 50911, a GABA-B receptor antagonist, in the lethargic mouse, gamma-hydroxybutyrate, and pentylenetetrazole models. J Pharmacol Exp Ther 274(3):1399-403. [PubMed: 7562514]  [MGI Ref ID J:30226]

Ishige K; Ito Y; Fukuda H. 1999. Characterization of absence seizure-dependent cyclic AMP responsive element-and activator protein 1 DNA-binding activities in lethargic (lh/lh) mice. Neurosci Lett 262(1):53-6. [PubMed: 10076871]  [MGI Ref ID J:56009]

Kaja S; Todorov B; van de Ven RC; Ferrari MD; Frants RR; van den Maagdenberg AM; Plomp JJ. 2007. Redundancy of Cav2.1 channel accessory subunits in transmitter release at the mouse neuromuscular junction. Brain Res 1143:92-101. [PubMed: 17320843]  [MGI Ref ID J:121463]

Khan Z; Jinnah HA. 2002. Paroxysmal dyskinesias in the lethargic mouse mutant. J Neurosci 22(18):8193-200. [PubMed: 12223573]  [MGI Ref ID J:79139]

Lin F; Barun S; Lutz CM; Wang Y; Hosford DA. 1999. Decreased (45)Ca(2)(+) uptake in P/Q-type calcium channels in homozygous lethargic (Cacnb4lh) mice is associated with increased beta3 and decreased beta4 calcium channel subunit mRNA expression. Brain Res Mol Brain Res 71(1):1-10. [PubMed: 10407181]  [MGI Ref ID J:56507]

Lin F; Wang Y; Hosford DA. 1999. Age-related relationship between mRNA expression of GABA(B) receptors and calcium channel beta4 subunits in cacnb4lh mice. Brain Res Mol Brain Res 71(1):131-5. [PubMed: 10407196]  [MGI Ref ID J:109316]

Lin FH; Cao Z; Hosford DA. 1993. Increased number of GABAB receptors in the lethargic (lh/lh) mouse model of absence epilepsy. Brain Res 608(1):101-6. [PubMed: 8388308]  [MGI Ref ID J:4388]

Lin FH; Lin S; Wang Y; Hosford DA. 1999. Glutamate decarboxylase isoforms in thalamic nuclei in lethargic mouse model of absence seizures. Brain Res Mol Brain Res 71(1):127-30. [PubMed: 10407195]  [MGI Ref ID J:109317]

Lin FH; Wang Y; Lin S; Cao Z; Hosford DA. 1995. GABAB receptor-mediated effects in synaptosomes of lethargic (lh/lh) mice. J Neurochem 65(5):2087-95. [PubMed: 7595494]  [MGI Ref ID J:29347]

Marmorstein LY; Wu J; McLaughlin P; Yocom J; Karl MO; Neussert R; Wimmers S; Stanton JB; Gregg RG; Strauss O; Peachey NS; Marmorstein AD. 2006. The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol 127(5):577-89. [PubMed: 16636205]  [MGI Ref ID J:136113]

McEnery MW; Copeland TD; Vance CL. 1998. Altered expression and assembly of N-type calcium channel alpha1B and beta subunits in epileptic lethargic (lh/lh) mouse. J Biol Chem 273(34):21435-8. [PubMed: 9705268]  [MGI Ref ID J:49244]

Qian J; Noebels JL. 2000. Presynaptic Ca(2+) influx at a mouse central synapse with Ca(2+) channel subunit mutations. J Neurosci 20(1):163-70. [PubMed: 10627593]  [MGI Ref ID J:120572]

Sidman RL; Green MC; Appel SH. 1965. Lethargic, lh, recessive. In: Catalog of the Neurological Mutants of the Mouse. Harvard University Press.  [MGI Ref ID J:28466]

Song I; Kim D; Choi S; Sun M; Kim Y; Shin HS. 2004. Role of the alpha1G T-type calcium channel in spontaneous absence seizures in mutant mice. J Neurosci 24(22):5249-57. [PubMed: 15175395]  [MGI Ref ID J:96913]

Zhang Y; Mori M; Burgess DL; Noebels JL. 2002. Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons. J Neurosci 22(15):6362-71. [PubMed: 12151514]  [MGI Ref ID J:106959]

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             View   International   Pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $1900.00
*Price(s) in US dollars ($)

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.

  • This strain is included in the Mouse Mutant Resource collection.
  • Genomic DNA is available for this strain from the Mouse DNA Resource.

Pricing for International shipping destinations             View   USA, Canada and Mexico   Pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $2470.00
*Price(s) in US dollars ($)

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.

  • This strain is included in the Mouse Mutant Resource collection.
  • Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls
  USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
  International - Control Pricing Information for Genetically Engineered Mutant Strains.

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.
Ordering and Purchasing Information

      Purchasing Information
      JAX® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form


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