Phenotypes associated with this allele

• Allele Symbol: Kcnj6^wv
• Allele Name: weaver
• Allele ID: MGI:1856525
• Summary: 12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcnj6^wv/Kcnj6^wv	B6CBA A^w-J/A-Kcnj6^wv	MGI:3625524
hm2	Kcnj6^wv/Kcnj6^wv	B6CBACa A^w-J/A-Kcnj6^wv/J	MGI:3581170
hm3	Kcnj6^wv/Kcnj6^wv	C57BL/6J-Kcnj6^wv	MGI:3625522
hm4	Kcnj6^wv/Kcnj6^wv	involves: C57BL/6	MGI:3625738
hm5	Kcnj6^wv/Kcnj6^wv	involves: C57BL/6 * CBA/CaGnLe	MGI:3625825
hm6	Kcnj6^wv/Kcnj6^wv	involves: C57BL/6J	MGI:3625685
hm7	Kcnj6^wv/Kcnj6^wv	involves: C57BL/6J * CBA	MGI:3625841
ht8	Kcnj6^wv/Kcnj6^+	B6CBA A^w-J/A-Kcnj6^wv	MGI:3625710
ht9	Kcnj6^wv/Kcnj6^+	B6CBACa A^w-J/A-Kcnj6^wv/J	MGI:3625520
ht10	Kcnj6^wv/Kcnj6^+	involves: C57BL/6 * CBA/CaGnLe	MGI:3625826
ht11	Kcnj6^wv/Kcnj6^+	involves: C57BL/6J	MGI:3625840
ht12	Kcnj6^tm1Stf/Kcnj6^wv	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3852163

Genotype
MGI:3625524

hm1

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: B6CBA A^w-J/A-Kcnj6^wv

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

abnormal male germ cell morphology ( J:23163 )

♂ • in numerous cases, fragments of a few flagella are seen within the same cytoplasmic matrix

abnormal sperm motility ( J:23163 )

♂ • in mutants, percentage of mobile sperm is 23.8% compared to 73% in wild-type

abnormal seminiferous tubule morphology ( J:23163 )

♂ • in P21 mutants, there is a lack of patent lumina

abnormal seminiferous tubule epithelium morphology ( J:23163 )

♂ • at P56 in mutants seminiferous epithelium displays progressive atrophic changes and many cellular aberrations

abnormal Sertoli cell morphology ( J:23163 )

♂ • at P21, mutants show Sertoli cells with slightly vacuolated cytoplasm

♂ • at P56, defects in seminiferous tubule epithelium are often associated with shrinkage of the apical processes of Sertoli cells, their disconnection from the surface of germ cells and paucity of mature spermatids

♂ • at P56, degenerating Sertoli cells of mutants are electron-dense, conspicuously shrunken, and have a foamy cytoplasmic appearance; many are round with small nuclei that have deeply folded surface configurations

abnormal spermatogenesis ( J:23163 )

♂ • in seminiferous tubules at P21, mutants have less advanced spermatid maturation and there are numerous multinucleated spermatids

♂ • cytoplasmic processes are observed which incorporate parallel membranous structures that show connections to the cisternae and vesicles of the smooth endoplasmic reticulum

oligozoospermia ( J:23163 )

♂ • sperm count in mutants is 7.1 x 10⁵ compared to 202.5 x 10⁵ in wild-type

globozoospermia ( J:23163 )

♂ • at P56, numerous round spermatids are swollen, multinucleated, show defects in acrosomal structures and are undergoing degeneration

abnormal spermatid morphology ( J:106298 )

♂ • spermatid nuclei often show irregular chromosomal condensation

♂ • numerous multinucleated spermatids are present at P21

homeostasis/metabolism

abnormal ion homeostasis ( J:106298 )

• resting Ca²⁺ levels are elevated in mutant cerebellar granule neurons compared to wild-type; high potassium stimulation evokes less [Ca²⁺] change in mutant cerebellar granule neurons than in wild-type

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:23163 )

♂ • in P21 mutants, there is a lack of patent lumina

abnormal seminiferous tubule epithelium morphology ( J:23163 )

♂ • at P56 in mutants seminiferous epithelium displays progressive atrophic changes and many cellular aberrations

abnormal Sertoli cell morphology ( J:23163 )

♂ • at P21, mutants show Sertoli cells with slightly vacuolated cytoplasm

♂ • at P56, defects in seminiferous tubule epithelium are often associated with shrinkage of the apical processes of Sertoli cells, their disconnection from the surface of germ cells and paucity of mature spermatids

♂ • at P56, degenerating Sertoli cells of mutants are electron-dense, conspicuously shrunken, and have a foamy cytoplasmic appearance; many are round with small nuclei that have deeply folded surface configurations

cellular

abnormal male germ cell morphology ( J:23163 )

♂ • in numerous cases, fragments of a few flagella are seen within the same cytoplasmic matrix

oligozoospermia ( J:23163 )

♂ • sperm count in mutants is 7.1 x 10⁵ compared to 202.5 x 10⁵ in wild-type

globozoospermia ( J:23163 )

♂ • at P56, numerous round spermatids are swollen, multinucleated, show defects in acrosomal structures and are undergoing degeneration

abnormal spermatid morphology ( J:106298 )

♂ • spermatid nuclei often show irregular chromosomal condensation

♂ • numerous multinucleated spermatids are present at P21

abnormal sperm motility ( J:23163 )

♂ • in mutants, percentage of mobile sperm is 23.8% compared to 73% in wild-type

Genotype
MGI:3581170

hm2

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: B6CBACa A^w-J/A-Kcnj6^wv/J

growth/size/body

decreased body weight ( J:72069 )

• homozygotes have decreased body weight compared to wild-type

behavior/neurological

ataxia ( J:72069 )

• homozygotes are characterized by an ataxic gait

abnormal locomotor activation ( J:6717 )

• when mutants are treated with direct dopamine agonists, they display a greater increase in locomotor activity than wild-type; amphetamine, which potentiates release of endogenous dopamine stores has less effect in mutants than in wild-type

nervous system

abnormal nervous system morphology ( J:6717 )

• in mutants the dopamine system fails to form

abnormal substantia nigra pars compacta morphology ( J:6717 )

• in mutants the pars compacta of substantia nigra appears hypocellular compared to wild-type

abnormal cerebellar cortex morphology ( J:72069 )

• in homozygotes, Purkinje cell ectopia in the nodular zone is less pronounced but the Purkinje cell layer is several layers thick

abnormal cerebellar lobule formation ( J:72069 )

• in homozygotes, normal lobation is disrupted

abnormal cerebellar Purkinje cell layer ( J:72069 )

abnormal Purkinje cell dendrite morphology ( J:72069 )

• in central zone, Purkinje cells have stunted and disorganized dendrites

ectopic Purkinje cell ( J:72069 )

• in the central zone of the cerebellar cortex, almost all Purkinje cells are clustered ectopically

decreased dopaminergic neuron number ( J:6717 )

• in mutants fewer large neurons are seen in the midbrain

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:29151 )

N • no aberrant bleeding time after tail vein nick

decreased dopamine level ( J:6717 )

• dopamine levels are decreased by 27% in the olfactory tubercle, 77% lower in the frontal cortex and 75% lower in the striatum in 6 month-old mutants compared to wild-type

Genotype
MGI:3625522

hm3

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: C57BL/6J-Kcnj6^wv

mortality/aging

lethality at weaning, incomplete penetrance ( J:30520 )

• Background Sensitivity: majority die at about 3 weeks of age

premature death ( J:13422 , J:30520 )

• most homozygous mutants do not live to maturity (J:13422)

• almost all mutants die within a year, whereas normal littermates live considerably longer (J:30520)

growth/size/body

decreased body size ( J:30520 )

• obvious 8 to 10 days after birth

decreased body weight ( J:30520 )

• mutants weigh about 50 percent of control sibling weight until the second month when they reach control sibling weight

behavior/neurological

decreased food intake ( J:30520 )

• mutants nurse poorly

abnormal motor capabilities/coordination/movement ( J:13422 )

• author states that behavior resembles that of Reln^rl and Rora^sg; no data is given

tremors ( J:30520 )

• the mouse moving accentuates the tremor

• a fine, rapid tremor is seen in the trunk and extremities

abnormal motor coordination/balance ( J:30520 )

• coordination is better in the second week of life than in the third week

• adult mice are unable to stand or step forward without falling over

impaired righting response ( J:30520 )

abnormal gait ( J:30520 )

weaving ( J:30520 )

induced hyperactivity ( J:30520 )

• unique to cerebellar mutants: mice may leap when excited or agitated despite being neurologically compromised

abnormal maternal nurturing ( J:30520 )

♀

tonic-clonic seizures ( J:30520 )

reproductive system

reduced female fertility ( J:30520 )

♀

reduced male fertility ( J:30520 )

♂

nervous system

tonic-clonic seizures ( J:30520 )

abnormal cerebellum development ( J:30520 )

abnormal cerebellum external granule cell layer morphology ( J:30520 )

• extensive degeneration of external granule cells prior to migration to form granule layer

abnormal cerebellar Purkinje cell layer ( J:30520 )

• during greatest mitotic activity, some granule cells are degenerating

increased Purkinje cell number ( J:30520 )

• relative to the volume of cerebellar cortical tissue

abnormal cerebellar granule layer morphology ( J:30520 )

• almost complete absence of granule cells

• cells are restricted to the most lateral portions of the cerebellar hemisphere and paraflocculus

abnormal cerebellar granule cell morphology ( J:15542 )

• granule cell neurons in the cerebellum have an unusually large number of coated vesicles throughout the length of the neurite in mutants

• microtubules in mutant granule cell neurites are less densely packed, curving and crossing along the neurite length and delimiting the neurite perimeter while in wild-type microtubules fill the internal dimensions of the neurite

• cytoskeletal organization of mutant granule cell neurons in mutants shows a denser cytoplasmic matrix, indistinct skeletal structure of the cytoplasm, and microtubules delineating the boundary of microspike-like projections and entering them

abnormal cerebellar molecular layer ( J:30520 )

• during greatest mitotic activity, the majority of granule cells are degenerating

absent cerebellum fissure ( J:30520 )

absent cerebellar lobules ( J:30520 )

small cerebellum ( J:30520 )

• abnormally small at 5 to 7 days and thereafter

• about one-fourth the size of normal in mature mice

Genotype
MGI:3625738

hm4

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: involves: C57BL/6

nervous system

abnormal cochlear VIII nucleus morphology ( J:121314 )

• loss of cartwheel cells in the dorsal cochlear nucleus is modest

• less granule cell loss

decreased Purkinje cell number ( J:121314 )

• scattered Purkinje cells beneath a thin molecular layer

abnormal cerebellar granule cell morphology ( J:35792 )

• in cultured cerebellar granule cells, very little inwardly rectifying K+ current can be evoked with somatostatin or by direct activation of G proteins, compared to wild-type cells

small cerebellum ( J:6875 )

• weight is 56% of control weight at 7 days (80% of controls for heterozygotes)

• weight of cerebellum is normal at 3 days of age

abnormal CNS synaptic transmission ( J:35792 )

abnormal synaptic glutamate release ( J:6875 )

• levels low at 7 and 21 days

abnormal synaptic neurotransmitter level ( J:6875 )

• taurine levels are 64% of control levels at 7 days of age

• aspartate, glutamine, and serine levels low at 10 days

homeostasis/metabolism

decreased taurine level ( J:6875 )

• taurine levels are 64% of control levels at 7 days of age

Genotype
MGI:3625825

hm5

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: involves: C57BL/6 * CBA/CaGnLe

behavior/neurological

impaired righting response ( J:18348 )

• at 7 days of age, homozygotes are distinguished by difficulty in righting themselves

tremors ( J:18348 )

• homozygous mutants are distinguished by tremors at 3 weeks of age

ataxia ( J:18348 , J:46842 )

• homozygous mutants are distinguished by ataxia at 3 weeks of age (J:18348)

• at P10, homozygotes display ataxia, tremor and hindlimb weakness (J:46842)

retropulsion ( J:18348 )

• A 7 days of age, homozygotes display tendency to move backward

muscle

hypotonia ( J:18348 )

• homozygous mutants are distinguished by hypotonia at 3 weeks of age

endocrine/exocrine glands

abnormal testis morphology ( J:18348 )

♂ • at P28, germ cells are underdeveloped or delayed; degeneration of germ cells in the semiferous epithelium is apparent and no tubules have late-step elongated spermatids and 6% of the tubules show degenerating seminiferous epithelia

♂ • at P35, mutant males show only a small number of germ cells that have finished the first round of spermatogenesis

abnormal seminiferous tubule morphology ( J:18348 )

♂ • in homozygotes, the testes have few seminiferous tubules containing elongated spermatids

seminiferous tubule degeneration ( J:18348 , J:46842 )

♂ • testes of homozygotes show degenerating tubules with degenerating germ cells (J:18348)

♂ • at P35, degeneration is much more severe than that observed at P28; degenerating germ cells are present in all mutants examined (J:18348)

♂ • homozygotes display variable germinal epithelial degeneration (J:46842)

nervous system

abnormal cerebellum external granule cell layer morphology ( J:46842 )

• numerous dying cells are seen compared to wild-type

• apoptotic cells lay mainly along the inner margin of the layer at P7 and 14; at P21 and 28, most apoptotic cells are confined to the thin external granule layer

• at P7, the normal organization of granule cells into a proliferative and a nonprolifeative zone is not maintained in homozygotes

abnormal cerebellar granule layer morphology ( J:46842 )

• there is a marked depletion of granule cells in the internal granule cell layer

abnormal cerebellar molecular layer ( J:46842 )

• there are ectopic granule cells found in the molecular layer

small cerebellum ( J:18348 , J:46842 , J:164122 )

• homozygotes have and abnormally small and malformed cerebellum (J:18348)

• at P7, the cerebellum of homozygotes is one-fifth the size of wild-type with a pronounced midline sulcus (J:46842)

• cerebellum wet weight is 40% of controls (J:164122)

reproductive system

azoospermia ( J:18348 )

♂ • no sperm are found in seminiferous tubules of male homozygotes

abnormal testis morphology ( J:18348 )

♂ • at P28, germ cells are underdeveloped or delayed; degeneration of germ cells in the semiferous epithelium is apparent and no tubules have late-step elongated spermatids and 6% of the tubules show degenerating seminiferous epithelia

♂ • at P35, mutant males show only a small number of germ cells that have finished the first round of spermatogenesis

abnormal seminiferous tubule morphology ( J:18348 )

♂ • in homozygotes, the testes have few seminiferous tubules containing elongated spermatids

seminiferous tubule degeneration ( J:18348 , J:46842 )

♂ • testes of homozygotes show degenerating tubules with degenerating germ cells (J:18348)

♂ • at P35, degeneration is much more severe than that observed at P28; degenerating germ cells are present in all mutants examined (J:18348)

♂ • homozygotes display variable germinal epithelial degeneration (J:46842)

abnormal epididymis morphology ( J:18348 )

♂ • lumens of epididymes of mutants are either empty or packed with degenerating germ cells with pyknotic nuclei and cellular debris; there are no long sickle-shaped nuclei indicative of mature sperm

male infertility ( J:18348 )

♂

cellular

azoospermia ( J:18348 )

♂ • no sperm are found in seminiferous tubules of male homozygotes

increased apoptosis ( J:46842 )

• in homozygotes there are many more apoptotic germ cells than in wild-type

• at P7 and 14, there is much greater cell death in the cerebellum of homozygotes

homeostasis/metabolism

increased noradrenaline level ( J:164122 )

• elevated noradrenaline in the cerebellum, cerebral cortex, and spinal cord

Genotype
MGI:3625685

hm6

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: involves: C57BL/6J

cellular

increased apoptosis ( J:16025 )

• percentage of pyknotic nuclei in the granule layer in cerebella of homozygotes is dramatically increased compared to wild-type and heterozygotes; this is increased in the vermis relative to that of the cerebellar hemisphere

abnormal cell migration ( J:16025 )

• prior to P4, granule cell migration is delayed

nervous system

abnormal cerebellum morphology ( J:5315 , J:16025 )

• cytoarchitecture of cerebellum is completely disorganized (J:5315)

• there is no clear distinction between cortical layers (J:5315)

• at P8, the area of the cerebellar hemispheres is reduced by 23% compared to wild-type (J:16025)

• at P8 the width of the cerebellum is reduced by 10 and 13% compared to heterozygotes and wild-type respectively (J:16025)

abnormal cerebellar cortex morphology ( J:5315 )

• small caliber parallel fibers are virtually absent

abnormal cerebellar Purkinje cell layer ( J:5315 )

• Purkinje cells display disordered arrangement

abnormal Purkinje cell morphology ( J:5315 )

• Purkinje cells display disordered arrangement

abnormal cerebellar granule layer morphology ( J:5315 , J:16025 )

• there is a severe paucity of granule cells in homozygotes (J:5315)

• by P2 there is a decrease in the number of cells in the vermal external granule layer in homozygotes; the difference is mor striking at P4 and unlike wild-type or heterozygous mice, no spindle-shaped cells are observed (J:16025)

abnormal cerebellar molecular layer ( J:16025 )

• the molecular layer is thin and relatively acellular from P0 to P6 compared to wild-type

abnormal cerebellum vermis morphology ( J:16025 )

• area of the vermis in homozygotes at P2 is 46% that of wild-type and 69% that of heterozygous mice; at P4, the vermis is 48% the size of wild-type

Genotype
MGI:3625841

hm7

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: involves: C57BL/6J * CBA

nervous system

abnormal hippocampal mossy fiber morphology ( J:30108 )

• mossy fibers emanating from the hilus of the dentate gyrus are not confined to the layers flanking the pyramidal cell layer

abnormal hippocampus pyramidal cell layer ( J:30108 )

• in homozygous mutants the pyramidal cell layer of area CA3 appears to be thicker than normal

• subdivision of the pyramidal layer into 2 and 3 layers is seen in area CA3

ectopic hippocampus pyramidal cells ( J:30108 )

• ectopic pyramidal cells are seen in the stratum radiatum and/or in the stratum oriens: these appear as small clusters or single cells surrounded by neuropil

Genotype
MGI:3625710

ht8

• Allelic Composition: Kcnj6^wv/Kcnj6⁺
• Genetic Background: B6CBA A^w-J/A-Kcnj6^wv

reproductive system

abnormal male germ cell morphology ( J:23163 )

♂ • in numerous cases, fragments of a few flagella are seen within the same cytoplasmic matrix

abnormal sperm motility ( J:23163 )

♂

abnormal seminiferous tubule epithelium morphology ( J:23163 )

♂ • cellular abnormalities of the germinal epithelium are more apparent at P140 and P211; seminiferous epithelium has prominent extracellular spaces and local depletion of the epithelium

abnormal spermatogenesis ( J:23163 )

♂

oligozoospermia ( J:23163 )

♂ • sperm count in mutants is 7.1 x 10⁵ compared to 127.7 x 10⁵ in wild-type

abnormal spermatid morphology ( J:23163 )

♂ • many step 2-3 spermatids often have 2 to 3 acrosomal vesicles associated with one nucleus

♂ • mature spermatids are often absent in affected areas of the seminiferous tubules; multinucleated spermatids are common

♂ • mature spermatids are deformed, maloriented and display irregular chromosomal condensation

endocrine/exocrine glands

abnormal seminiferous tubule epithelium morphology ( J:23163 )

♂ • cellular abnormalities of the germinal epithelium are more apparent at P140 and P211; seminiferous epithelium has prominent extracellular spaces and local depletion of the epithelium

cellular

abnormal male germ cell morphology ( J:23163 )

♂ • in numerous cases, fragments of a few flagella are seen within the same cytoplasmic matrix

oligozoospermia ( J:23163 )

♂ • sperm count in mutants is 7.1 x 10⁵ compared to 127.7 x 10⁵ in wild-type

abnormal spermatid morphology ( J:23163 )

♂ • many step 2-3 spermatids often have 2 to 3 acrosomal vesicles associated with one nucleus

♂ • mature spermatids are often absent in affected areas of the seminiferous tubules; multinucleated spermatids are common

♂ • mature spermatids are deformed, maloriented and display irregular chromosomal condensation

abnormal sperm motility ( J:23163 )

♂

Genotype
MGI:3625520

ht9

• Allelic Composition: Kcnj6^wv/Kcnj6⁺
• Genetic Background: B6CBACa A^w-J/A-Kcnj6^wv/J

nervous system

abnormal cerebellar Purkinje cell layer ( J:72069 )

• disruptions of Purkinje cell alignment are observed

• in more rostral regions of the central zone, Purkinje cells are ecctopic and have stunted and disorganized dendrites

abnormal Purkinje cell morphology ( J:72069 )

• in the central zone, Purkinje cells located farther from the pial surface are clumped together in clusters

abnormal Purkinje cell dendrite morphology ( J:72069 )

• in more rostral regions of the central zone, cells have stunted and have randomly organized dendrites

delaminated Purkinje cell layer ( J:72069 )

• Purkinje cell layer is irregular and several cell layers thick, especially in the anterior zone of the cerebellar cortex

Genotype
MGI:3625826

ht10

• Allelic Composition: Kcnj6^wv/Kcnj6⁺
• Genetic Background: involves: C57BL/6 * CBA/CaGnLe

nervous system

abnormal cerebellum morphology ( J:18348 )

• in heterozygotes the cerebellum is slightly shrunken, and some folia is less well-developed than in wild-type

abnormal cerebellar Purkinje cell layer ( J:46842 )

• heterozygotes display a disordered Purkinje cell layer

abnormal cerebellar granule layer morphology ( J:46842 )

• there is moderated loss of granule cells

small cerebellum ( J:46842 )

• cerebellum is slightly smaller in heterozygotes; it is misshapen and deflated

Genotype
MGI:3625840

ht11

• Allelic Composition: Kcnj6^wv/Kcnj6⁺
• Genetic Background: involves: C57BL/6J

cellular

increased apoptosis ( J:16025 )

• more pyknotic nuclei are observed in the external granule layer of heterozygotes at all times compared to wild-type

abnormal cell migration ( J:16025 )

• prior to P4, granule cell migration is delayed

nervous system

abnormal substantia nigra pars compacta morphology ( J:38206 )

• substantial cell loss in the substantia nigra pars compacta of the midbrain

abnormal cerebellum morphology ( J:16025 )

• cerebellar hemispheres in heterozygotes are 37% smaller than wild-type

• at P8, total width of the cerebellum is decreased by 13%

abnormal cerebellar molecular layer ( J:16025 )

• in heterozygotes the molecular layer is thin and relative acellular at P4; at P6 the molecular layer appears to be hypercellular compared to wild-type

• in the cerebellar hemispheres, 40% fewer pyknotic nuclei are observed than in the vermis

abnormal cerebellum vermis morphology ( J:16025 )

• from P2 to P4, area of the vermis is 33% smaller in heterozygotes than in wild-type; by P8, the vermal area of mutants is 57% of the area of wild-type

behavior/neurological

abnormal locomotor behavior ( J:38206 )

reproductive system

male infertility ( J:38206 )

♂

Genotype
MGI:3852163

ht12

• Allelic Composition: Kcnj6^tm1Stf/Kcnj6^wv
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

nervous system

abnormal cerebellar Purkinje cell layer ( J:38206 )

• Purkinje cell layer is disorganized in various locations and some of the Purkinje cells are found deep in the granule cell layer

thin cerebellar granule layer ( J:38206 )