All Phenotypes Gja1<tm1Kwi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gja1^tm1Kwi/Gja1^tm1Kwi	involves: 129P2/OlaHsd	MGI:3720019
cn2	Gja1^tm1Kwi/Gja1^tm1Kwi	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3720025
cn3	Gja1^tm1Kwi/Gja1^{tm5(cre/ERT)Kwi}	involves: 129P2/OlaHsd	MGI:3720020
cn4	Gja1^tm1Kwi/Gja1^{tm5(cre/ERT)Kwi}	involves: 129P2/OlaHsd * C57BL/6	MGI:3720023
cn5	Gja1^tm1Kwi/Gja1^tm1Kwi Tg(S100b-cre)20Ito/0	involves: 129P2/OlaHsd * C57BL/6	MGI:4441378
cn6	Gja1^tm1Kwi/Gja1^tm1Kwi H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3653215
cn7	Gja1^tm1Kwi/Gja1⁺ Tg(KRT5-cre)5132Jlj/0	involves: 129P2/OlaHsd * C57BL/6J * DBA/2J	MGI:5441211
cn8	Gja1^tm1Kwi/Gja1^tm1Kwi Plekha5^{Tg(AMH-cre)1Flor}/Plekha5⁺	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4366524
cn9	Gja1^tm1Kdr/Gja1^tm1Kwi Tg(Tek-cre)5326Sato/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J	MGI:3621038

Allelic Composition	Gja1^tm1Kwi/Gja1^tm1Kwi
Genetic Background	involves: 129P2/OlaHsd

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Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1Kwi mutation (1 available); any Gja1 mutation (60 available)

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

cardiovascular system

cardiovascular system phenotype ( J:102342 )

N	• mice have normal heart conduction

Allelic Composition	Gja1^tm1Kwi/Gja1^tm1Kwi
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1Kwi mutation (1 available); any Gja1 mutation (60 available)

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

muscle

abnormal muscle regeneration ( J:94694 )

• muscle regeneration is impaired

Allelic Composition	Gja1^tm1Kwi/Gja1^{tm5(cre/ERT)Kwi}
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1Kwi mutation (1 available); any Gja1 mutation (60 available)
Gja1^{tm5(cre/ERT)Kwi} mutation (1 available); any Gja1 mutation (60 available)

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

cardiovascular system

increased heart rate ( J:102342 )

irregular heartbeat ( J:102342 )

• ectopic ventricular beats and ventricle tachycardia are observed in 7 of 10 4-OHT treated mice

abnormal impulse conducting system conduction ( J:102342 )

• 4-OHT treated mice have impaired conduction that is more pronounced on the right ventricle than the left ventricle

• longitudinal and transverse conduction is reduced on the right ventricle in 4-OHT treated mice

• transverse conduction is reduced on the left ventricle in 4-OHT treated mice

immune system

abnormal neutrophil physiology ( J:129091 )

• following treatment with tamoxifen, ATP release from polymorphonuclear (PMN) cells is less than 15% of wild-type

hematopoietic system

abnormal neutrophil physiology ( J:129091 )

• following treatment with tamoxifen, ATP release from polymorphonuclear (PMN) cells is less than 15% of wild-type

Allelic Composition	Gja1^tm1Kwi/Gja1^{tm5(cre/ERT)Kwi}
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

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

homeostasis/metabolism

impaired skin barrier function ( J:85065 )

• 4-OHT treated mice exhibit 40% reduction in coupling compared to un-induced and wild-type mice

integument

impaired skin barrier function ( J:85065 )

• 4-OHT treated mice exhibit 40% reduction in coupling compared to un-induced and wild-type mice

Allelic Composition	Gja1^tm1Kwi/Gja1^tm1Kwi Tg(S100b-cre)20Ito/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1Kwi mutation (1 available); any Gja1 mutation (60 available)
Tg(S100b-cre)20Ito mutation (1 available)

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

nervous system

nervous system phenotype ( J:159160 )

• cytoarchitecture of the adult brain appears normal; at 1.5 months, Bergmann glial processes show no morphologic abnormalites and Purkinje cell dendrite branching is normal

• cerebellar LTD induction and maintenance is not affected; no loss of astrocytes in the cerebellar cortex are detected in mutants

abnormal glial cell physiology ( J:159160 )

• intercellular coupling of Bergmann glial cells (through gap junctions) as indicated by dye injection is significantly reduced compared to Gja1^tm1Kwi homozygous controls at 3.5 months

behavior/neurological

behavior/neurological phenotype ( J:159160 )

N	• no enhanced locomotor activity or increased exploratory behavior is observed in open field tests • associative motor learning (in delay eyeblink conditioning) is similar between mutants and controls at 3-3.5 months

Allelic Composition	Gja1^tm1Kwi/Gja1^tm1Kwi H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1Kwi mutation (1 available); any Gja1 mutation (60 available)
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)

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

normal phenotype

no abnormal phenotype detected ( J:110142 )

• normal embryonic development and cardiac morphogenesis is observed

Allelic Composition	Gja1^tm1Kwi/Gja1⁺ Tg(KRT5-cre)5132Jlj/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1Kwi mutation (1 available); any Gja1 mutation (60 available)
Tg(KRT5-cre)5132Jlj mutation (1 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:188626 )

• mice die between E16 and E18.5

immune system

abnormal lymphatic vessel morphology ( J:188626 )

• lymphatic vessel networks are less interconnected than in control mice

absent lymphatic vessels ( J:188626 )

• fine vessels are absent

homeostasis/metabolism

lymphedema ( J:188626 )

• severe

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

reproductive system

reproductive system phenotype ( J:122838 )

N	• male mutants display normal testicular descent and genital tract development relative to control littermates

abnormal spermatid morphology ( J:122838 )

• adult male mutants show loss and/or reduction of round or elongated spermatids

abnormal spermatogonia morphology ( J:122838 )

• adult male mutants show a significant reduction in the mean number of spermatogonia per seminiferous tubule relative to control littermates

decreased male germ cell number ( J:122838 )

• at P30, P60, P90, and P120, male mutants exhibit significantly reduced germ cell (spermatogonia) counts relative to control littermates

azoospermia ( J:122838 )

• no sperm are detected in the cauda epididymidis of mutant males

abnormal Sertoli cell morphology ( J:122838 )

• most mutant Sertoli cells display immature or aberrant features, including rounded nuclei, and absence of tubular lumina and cytoplasmic vacuoles

• no mitotic figures are observed

increased Sertoli cell number ( J:122838 )

• at P30, P60, P90, and P120, male mutants exhibit a significant increase in the mean number of Sertoli cells per seminiferous tubule relative to control littermates

small seminiferous tubules ( J:122838 )

• adult male mutants (P170) show smaller tubules with Sertoli cell (SC)-only syndrome and intratubular SC clusters

increased Leydig cell number ( J:122838 )

• a hyperplasia of interstitial Leydig cells is observed

small testis ( J:122838 )

• mutant testes are significantly smaller than those of control littermates

decreased testis weight ( J:122838 )

• adult male mutants (P60 to P120) show a drastic reduction in testis weight and relative testis weight (ratio between the weight of both testes to body weight) compared to control littermates

arrest of spermatogenesis ( J:122838 )

• 95% of mutant seminiferous tubules exhibit an arrest of spermatogenesis at the level of spermatogonia

• however, in 10 of 15 mutant males, ~5% of tubules exhibit qualitative normal spermatogenesis and few elongated spermatids

male infertility ( J:122838 )

• no pups are produced when mutant males are mated with wild-type females, despite normal sexual behavior and presence of vaginal plugs

endocrine/exocrine glands

abnormal Sertoli cell morphology ( J:122838 )

• most mutant Sertoli cells display immature or aberrant features, including rounded nuclei, and absence of tubular lumina and cytoplasmic vacuoles

• no mitotic figures are observed

increased Sertoli cell number ( J:122838 )

• at P30, P60, P90, and P120, male mutants exhibit a significant increase in the mean number of Sertoli cells per seminiferous tubule relative to control littermates

small seminiferous tubules ( J:122838 )

• adult male mutants (P170) show smaller tubules with Sertoli cell (SC)-only syndrome and intratubular SC clusters

increased Leydig cell number ( J:122838 )

• a hyperplasia of interstitial Leydig cells is observed

small testis ( J:122838 )

• mutant testes are significantly smaller than those of control littermates

decreased testis weight ( J:122838 )

• adult male mutants (P60 to P120) show a drastic reduction in testis weight and relative testis weight (ratio between the weight of both testes to body weight) compared to control littermates

cellular

abnormal spermatid morphology ( J:122838 )

• adult male mutants show loss and/or reduction of round or elongated spermatids

abnormal spermatogonia morphology ( J:122838 )

• adult male mutants show a significant reduction in the mean number of spermatogonia per seminiferous tubule relative to control littermates

decreased male germ cell number ( J:122838 )

• at P30, P60, P90, and P120, male mutants exhibit significantly reduced germ cell (spermatogonia) counts relative to control littermates

azoospermia ( J:122838 )

• no sperm are detected in the cauda epididymidis of mutant males

Allelic Composition	Gja1^tm1Kdr/Gja1^tm1Kwi Tg(Tek-cre)5326Sato/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1Kdr mutation (1 available); any Gja1 mutation (60 available)
Gja1^tm1Kwi mutation (1 available); any Gja1 mutation (60 available)
Tg(Tek-cre)5326Sato mutation (0 available)

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

normal phenotype

no abnormal phenotype detected ( J:78662 )

• mutants lacking Gja1 in endothelium are viable, fertile, and show no abnormalities in the heart, brain, retina, pancreas, liver, kidney, spleen, testis, or blood pressure

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