Phenotypes associated with this allele

• Allele Symbol: Gja1^tm1Kdr
• Allele Name: targeted mutation 1, Gerald M Kidder
• Allele ID: MGI:1857177
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gja1^tm1Kdr/Gja1^tm1Kdr	involves: 129S1/Sv * 129X1/SvJ	MGI:2176951
hm2	Gja1^tm1Kdr/Gja1^tm1Kdr	involves: 129S1/Sv * 129X1/SvJ * C57BL	MGI:3811651
hm3	Gja1^tm1Kdr/Gja1^tm1Kdr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3628461
hm4	Gja1^tm1Kdr/Gja1^tm1Kdr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:2662715
hm5	Gja1^tm1Kdr/Gja1^tm1Kdr	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2662755
ht6	Gja1^tm1Kdr/Gja1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3628460
ht7	Gja1^tm1Kdr/Gja1^tm1.1Kwi	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J	MGI:3621037
cn8	Gja1^tm1Kdr/Gja1^tm1Kwi Tg(Tek-cre)5326Sato/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J	MGI:3621038
cx9	Gja1^tm1Kdr/Gja1^tm1Kdr Tg(CMV-Gja1)BClo/0	involves: 129S1/Sv * 129X1/SvJ * SJL/J * SWR/J	MGI:3622647

Genotype
MGI:2176951

hm1

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1Kdr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:24121 )

• homozygotes survive to term but die shortly after birth of cyanosis caused by right ventricular outflow tract obstruction

• homozygotes delivered by Cesarian section die shortly after delivery; occasionally, pups survive up to 5 hrs after birth

cardiovascular system

abnormal trabecula carnea morphology ( J:24121 )

• mutant hearts display a slight increase in trabeculation of the right ventricle relative to wild-type or heterozygous hearts

abnormal cardiac outflow tract development ( J:24121 )

• at E16.5 and at term, homozygotes exhibit a consistent conus defect, manifest as an enlarged right ventricular outflow tract

• at term, the enlarged right ventricular cavity is abnormally filled with intraventicular septae that divide the tract into separate, interconnected or blind-ended chambers

abnormal heart right ventricle outflow tract morphology ( J:24121 )

• at E16.5 and at term, homozygotes exhibit a consistent conus defect, manifest as an enlarged right ventricular outflow tract

abnormal pulmonary valve morphology ( J:24121 )

• newborns display an obstruction of the subpulmonary right ventricular outflow tract from the heart to the newly ventilated lungs resulting in failure of pulmonary gas exchange

abnormal vascular smooth muscle physiology ( J:212895 )

• PDGF-induced vascular smooth muscle cell proliferation in low serum media is ablated

respiratory system

abnormal breathing pattern ( J:24121 )

• homozygous mutant pups exhibit labored breathing and swollen abdomens and stomach

abnormal pulmonary gas exchange ( J:24121 )

homeostasis/metabolism

cyanosis ( J:24121 )

• homozygotes delivered by Cesarian section remain cyanotic until death

edema ( J:24121 )

• homozygous mutant pups are externally normal, except for some swelling in the neck area

muscle

abnormal trabecula carnea morphology ( J:24121 )

• mutant hearts display a slight increase in trabeculation of the right ventricle relative to wild-type or heterozygous hearts

abnormal vascular smooth muscle physiology ( J:212895 )

• PDGF-induced vascular smooth muscle cell proliferation in low serum media is ablated

Genotype
MGI:3811651

hm2

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1Kdr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL

E16.5 and E18.5 Gja1^tm1Kdr/Gja1^tm1Kdr skulls are hypomineralized

skeleton

abnormal osteoblast differentiation ( J:65866 )

• cultured calvaria osteoblasts show a decrease in alkaline phosphatase activity, indicating abnormal differentiation

abnormal osteoblast physiology ( J:65866 )

• gap junctional communication is impaired in osteoblasts as indicated by minimal cell to cell transmission of calcein

• calvarial osteoblasts grown in mineralization medium show a reduced capacity to form mineralized nodules

abnormal cranium morphology ( J:65866 )

• flattened skull

small cranium ( J:65866 )

• smaller at E18.5

abnormal neurocranium morphology ( J:65866 )

• cranial bones originating from migratory neural crest cells are hypoplastic, leaving an open foramen at birth

small frontal bone ( J:65866 )

interparietal bone hypoplasia ( J:65866 )

abnormal occipital bone morphology ( J:65866 )

• mutants have a more prominent cartilaginous anlage of the occipital bone

abnormal parietal bone morphology ( J:65866 )

• open parietal foramen

• thinner, brittle parietal bones with reduced diploic space

thin parietal bone ( J:65866 )

abnormal alisphenoid bone morphology ( J:65866 )

• misshapen at birth

abnormal zygomatic arch morphology ( J:65866 )

• misshapen

small neurocranium ( J:65866 )

• small calvarium

small lower incisors ( J:65866 )

• lower incisors are not as prominent at birth as in wild-type

abnormal tooth development ( J:65866 )

• incisor teeth are not visible at E18.5 as they are in wild-type, and although they are visible at birth, they are less prominent

small mandible ( J:65866 )

• smaller at E18.5 and at birth

small maxilla ( J:65866 )

• maxillary bones are slightly smaller

small nasal bone ( J:65866 )

• slightly smaller

short zygomatic bone ( J:65866 )

• jugal bone of the zygomatic arch is shorter, resulting in a misshapen zygomatic arch

abnormal thoracic cage morphology ( J:65866 )

• the thoracic cage is more brittle at E15.5

abnormal rib morphology ( J:65866 )

• ribs appear jagged-shaped and slightly thinner at E15.5

delayed bone ossification ( J:65866 )

• delayed ossification of the calvarium bones, clavicles, ribs, vertebrae, and limbs

delayed endochondral bone ossification ( J:65866 )

• bone segments formed by endochondral ossification, including pterygoid, alisphenoid, and basisphenoid, show delayed ossification

• endochondral ossification of the axial skeleton is delayed by 1-2 days, but is normal by birth

delayed intramembranous bone ossification ( J:65866 )

• intramembranous ossification of the cranial vault and the clavicle is delayed

craniofacial

abnormal cranium morphology ( J:65866 )

• flattened skull

small cranium ( J:65866 )

• smaller at E18.5

abnormal neurocranium morphology ( J:65866 )

• cranial bones originating from migratory neural crest cells are hypoplastic, leaving an open foramen at birth

small frontal bone ( J:65866 )

interparietal bone hypoplasia ( J:65866 )

abnormal occipital bone morphology ( J:65866 )

• mutants have a more prominent cartilaginous anlage of the occipital bone

abnormal parietal bone morphology ( J:65866 )

• open parietal foramen

• thinner, brittle parietal bones with reduced diploic space

thin parietal bone ( J:65866 )

abnormal alisphenoid bone morphology ( J:65866 )

• misshapen at birth

abnormal zygomatic arch morphology ( J:65866 )

• misshapen

small neurocranium ( J:65866 )

• small calvarium

small lower incisors ( J:65866 )

• lower incisors are not as prominent at birth as in wild-type

abnormal tooth development ( J:65866 )

• incisor teeth are not visible at E18.5 as they are in wild-type, and although they are visible at birth, they are less prominent

small mandible ( J:65866 )

• smaller at E18.5 and at birth

small maxilla ( J:65866 )

• maxillary bones are slightly smaller

small nasal bone ( J:65866 )

• slightly smaller

short zygomatic bone ( J:65866 )

• jugal bone of the zygomatic arch is shorter, resulting in a misshapen zygomatic arch

pointed snout ( J:65866 )

• slightly smaller and pointed snout

small snout ( J:65866 )

• slightly smaller and pointed snout

hearing/vestibular/ear

decreased tympanic ring size ( J:65866 )

• smaller and thinner at birth

cellular

abnormal osteoblast differentiation ( J:65866 )

• cultured calvaria osteoblasts show a decrease in alkaline phosphatase activity, indicating abnormal differentiation

abnormal osteoblast physiology ( J:65866 )

• gap junctional communication is impaired in osteoblasts as indicated by minimal cell to cell transmission of calcein

• calvarial osteoblasts grown in mineralization medium show a reduced capacity to form mineralized nodules

growth/size/body

small lower incisors ( J:65866 )

• lower incisors are not as prominent at birth as in wild-type

abnormal tooth development ( J:65866 )

• incisor teeth are not visible at E18.5 as they are in wild-type, and although they are visible at birth, they are less prominent

small nasal bone ( J:65866 )

• slightly smaller

pointed snout ( J:65866 )

• slightly smaller and pointed snout

small snout ( J:65866 )

• slightly smaller and pointed snout

respiratory system

small nasal bone ( J:65866 )

• slightly smaller

Genotype
MGI:3628461

hm3

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1Kdr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

behavior/neurological

abnormal suckling behavior ( J:39599 )

• newborn homozygotes fail to feed and are cast aside by their mothers

cardiovascular system

abnormal cardiovascular system physiology ( J:39599 )

• attempts to record spontaneous or paced electrical activity in neonatal homozygous mutant hearts were unsuccessful, suggesting severe functional defects

Genotype
MGI:2662715

hm4

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1Kdr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

endocrine/exocrine glands

impaired ovarian folliculogenesis ( J:54458 )

♀ • cultured neonatal ovaries failed to develop follicles with multuple layers of granulosa cells

small ovary ( J:54458 )

♀

small testis ( J:54458 )

♂

reproductive system

decreased germ cell number ( J:54458 )

• reduced number of germ cells in the fetal gonads of both sexes

impaired ovarian folliculogenesis ( J:54458 )

♀ • cultured neonatal ovaries failed to develop follicles with multuple layers of granulosa cells

small ovary ( J:54458 )

♀

small testis ( J:54458 )

♂

cellular

decreased germ cell number ( J:54458 )

• reduced number of germ cells in the fetal gonads of both sexes

Genotype
MGI:2662755

hm5

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1Kdr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

reproductive system

decreased male germ cell number ( J:71071 )

♂ • testes grafted from mutant fetuses under the kidney capsules of adult males and allowed to grow for 3 weeks contain at least 90% fewer germ cells

cellular

decreased male germ cell number ( J:71071 )

♂ • testes grafted from mutant fetuses under the kidney capsules of adult males and allowed to grow for 3 weeks contain at least 90% fewer germ cells

Genotype
MGI:3628460

ht6

• Allelic Composition: Gja1^tm1Kdr/Gja1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

cardiovascular system

abnormal coronary artery morphology ( J:112454 )

• 22 of 25 show various defects in patterning of the coronary arteries, including abnormal origin and course of the main coronary artery stems, multiple accessory coronary arteries, and dual septal-conal branches

abnormal impulse conducting system conduction ( J:39599 )

• in neonatal heterozygotes, ventricular epicardial conduction of paced beats is 30% slower than in wild-type neonates

• in adult (6-9 mo-old) heterozygotes, ventricular epicardial conduction is 44% slower than in wild-type hearts; no differences are observed in refractory periods

• no apparent differences in wall thickness or the orientation or fiber curvature in the three muscle layers of the left ventricle are observed

prolonged QRS complex duration ( J:39599 )

• standard 3-lead surface ECGs from adult heterozygotes indicate a significantly prolonged QRS interval relative to wild-type mice (13.41.8 ms vs 11.51.4 ms, respectively)

• no differences are observed in spontaneous heart rates either during isolated heart studies in vitro or by electrocardiography

• no differences are noted in atrioventricular conduction times in isolated neonatal heterozygous hearts, or in PQ intervals in adult ECG studies

• whole-cell recordings display no differences in any action potential parameters in ventricular myocytes isolated from neonatal heterozygous and wild-type mice

Genotype
MGI:3621037

ht7

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1.1Kwi
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:78662 )

• homozygotes die within 1 day after birth

Genotype
MGI:3621038

cn8

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

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

Genotype
MGI:3622647

cx9

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1Kdr; Tg(CMV-Gja1)BClo/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * SJL/J * SWR/J

mortality/aging

postnatal lethality ( J:40388 )

• 3 of 10 die at P12

cardiovascular system

abnormal heart morphology ( J:40388 )

• exhibit a network of fiber-like projections over the surface of the heart that are not seen in controls

heart right ventricle hypertrophy ( J:40388 )

• conotruncal enlargement of the right ventricle with multiple bulges

abnormal blood circulation ( J:40388 )

• blood flow into the right ventricular tract shows varying degrees of obstruction, with the most severe obstruction leading to backflow of the injected dye into the atrial chambers

muscle

heart right ventricle hypertrophy ( J:40388 )

• conotruncal enlargement of the right ventricle with multiple bulges

growth/size/body

heart right ventricle hypertrophy ( J:40388 )

• conotruncal enlargement of the right ventricle with multiple bulges