Phenotypes associated with this allele

• Allele Symbol: Gja1⁺
• Allele Name: wild type
• Allele ID: MGI:2430612
• Summary: 17 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gja1^em1(IMPC)Ccpcz/Gja1^+	C57BL/6NCrl-Gja1^em1(IMPC)Ccpcz/Ccpcz	MGI:8176200
ht2	Gja1^tm1.1Kwi/Gja1^+	involves: 129P2/OlaHsd	MGI:3769010
ht3	Gja1^tm3(Gja5)Kwi/Gja1^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3620994
ht4	Gja1^tm2(Gjb1)Kwi/Gja1^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3620991
ht5	Gja1^tm7(Gja2)Kwi/Gja1^+	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3763182
ht6	Gja1^tm1Kdr/Gja1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3628460
ht7	Gja1^tm3Gfi/Gja1^+	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3808026
ht8	Gja1^tm8.1Kwi/Gja1^+	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:3807707
ht9	Gja1^M1Jrt/Gja1^+	involves: C3H/HeJ * C57BL/6J	MGI:3620827
ht10	Gja1^M1Jrt/Gja1^+	involves: C3H/HeJ * C57BL/6J * FVB/N	MGI:3620841
ht11	Gja1^tm1Clo/Gja1^+	Not Specified	MGI:7545134
ht12	Gja1^tm2Clo/Gja1^+	Not Specified	MGI:7545136
ht13	Gja1^tm1.1Gfi/Gja1^+	Not Specified	MGI:3652978
cn14	Gja1^tm1Kwi/Gja1^+ Tg(KRT5-cre)5132Jlj/0	involves: 129P2/OlaHsd * C57BL/6J * DBA/2J	MGI:5441211
cn15	Gja1^tm8Kwi/Gja1^+ Tg(Pgk1-cre)1Lni/0	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:3807710
cn16	Gja1^tm8Kwi/Gja1^+ Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3807708
cn17	Gja1^tm8Kwi/Gja1^+ Tg(Myh6-cre)2182Mds/0	involves: 129S2/SvPas * FVB/N	MGI:3807709

Genotype
MGI:8176200

ht1

• Allelic Composition: Gja1^{em1(IMPC)Ccpcz}/Gja1⁺
• Genetic Background: C57BL/6NCrl-Gja1^{em1(IMPC)Ccpcz}/Ccpcz

Data Sources

IMPC Data for Gja1

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

hematopoietic system

abnormal spleen morphology ( J:211773 )

♂

IMPC - CCP-IMG

immune system

abnormal spleen morphology ( J:211773 )

♂

IMPC - CCP-IMG

integument

abnormal skin morphology ( J:211773 )

♂

IMPC - CCP-IMG

skeleton

abnormal bone structure ( J:211773 )

IMPC - CCP-IMG

Genotype
MGI:3769010

ht2

• Allelic Composition: Gja1^tm1.1Kwi/Gja1⁺
• Genetic Background: involves: 129P2/OlaHsd

immune system

abnormal neutrophil physiology ( J:129091 )

• ATP release from polymorphonuclear (PMN) cells is lower than in wild-type PMNs but higher than in null mice

hematopoietic system

abnormal neutrophil physiology ( J:129091 )

• ATP release from polymorphonuclear (PMN) cells is lower than in wild-type PMNs but higher than in null mice

Genotype
MGI:3620994

ht3

• Allelic Composition: Gja1^tm3(Gja5)Kwi/Gja1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

cardiovascular system

irregular heartbeat ( J:65112 )

• some heterozygotes exhibit spontaneous atrioventricular dissociations

ventricular premature beat ( J:65112 )

• some heterozygotes exhibit spontaneous singular premature ventricular beats

Genotype
MGI:3620991

ht4

• Allelic Composition: Gja1^tm2(Gjb1)Kwi/Gja1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

cardiovascular system

ventricular premature beat ( J:65112 )

• 2 of 9 exhibit spontaneous singular premature ventricular beats, however ventricular conductance is normal

endocrine/exocrine glands

abnormal milk ejection ( J:65112 )

♀ • heterozygotes exhibit normal mammary gland development and milk production, suggesting that milk ejection is impaired

abnormal mammary gland luminal epithelium morphology ( J:65112 )

♀ • the secretory epithelium is flattened

abnormal mammary gland alveolus morphology ( J:65112 )

♀ • alveoli appear dilated

integument

abnormal milk ejection ( J:65112 )

♀ • heterozygotes exhibit normal mammary gland development and milk production, suggesting that milk ejection is impaired

abnormal mammary gland luminal epithelium morphology ( J:65112 )

♀ • the secretory epithelium is flattened

abnormal mammary gland alveolus morphology ( J:65112 )

♀ • alveoli appear dilated

behavior/neurological

abnormal milk ejection ( J:65112 )

♀ • heterozygotes exhibit normal mammary gland development and milk production, suggesting that milk ejection is impaired

cellular

maternal effect ( J:65112 )

• pups of heterozygous mothers mated to wild-type males, regardless of genotype, gain weight at a severely reduced rate and exhibit high postnatal lethality

Genotype
MGI:3763182

ht5

• Allelic Composition: Gja1^tm7(Gja2)Kwi/Gja1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Histological sections of lactating mammary glands of wild type and Gja1^tm7(Gja2)Kwi/Gja1⁺ mice

reproductive system

abnormal mammary gland growth during pregnancy ( J:126511 )

♀ • 9 days post coitum, glandular alveoli are less dilated and the ductuli are less branched resulting in fewer secretory alveoli unlike in wild-type mice, the glandular unit is composed of extended areas of adipose tissue

♀ • however, differentiation does occur in some alveoli and milk droplets are observed

cardiovascular system

decreased heart rate ( J:126511 )

• 329+/-67 beats per minute compared to 346+/-80 beats per minute in wild-type neonates

• however, there is no difference in electrocardiogram readings for neonates

endocrine/exocrine glands

abnormal mammary gland growth during pregnancy ( J:126511 )

♀ • 9 days post coitum, glandular alveoli are less dilated and the ductuli are less branched resulting in fewer secretory alveoli unlike in wild-type mice, the glandular unit is composed of extended areas of adipose tissue

♀ • however, differentiation does occur in some alveoli and milk droplets are observed

integument

abnormal mammary gland growth during pregnancy ( J:126511 )

♀ • 9 days post coitum, glandular alveoli are less dilated and the ductuli are less branched resulting in fewer secretory alveoli unlike in wild-type mice, the glandular unit is composed of extended areas of adipose tissue

♀ • however, differentiation does occur in some alveoli and milk droplets are observed

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:3808026

ht7

• Allelic Composition: Gja1^tm3Gfi/Gja1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

Syndactyly and normal heart morphology in Gja1^tm3Gfi/Gja1⁺ mice

mortality/aging

preweaning lethality, incomplete penetrance ( J:130575 )

• from heterozygote x wild-type matings, only 36% of offspring are heterozygous compared to the expected 50%

cardiovascular system

cardiovascular system phenotype ( J:130575 )

N • adult hearts do not show morphological abnormalities such as right ventricular outflow obstruction, atrial septal defect, or patent foramen ovale

N • left ventricle structure and contractile function show no significant differences from littermate controls

ventricular tachycardia ( J:130575 )

• all mutants studied display inducible or spontaneous ventricular tachycardia (VT) compared to no wild-type hearts

abnormal impulse conducting system conduction ( J:130575 )

• conduction velocity in both longitudinal (CV_max) and transverse directions (CV_min) is significantly reduced compared to littermate controls

abnormal heart electrocardiography waveform feature ( J:130575 )

• ratio of R wave/P wave amplitude is significantly reduced

decreased QRS amplitude ( J:130575 )

• amplitude is diminished

abnormal myocardial fiber physiology ( J:130575 )

limbs/digits/tail

syndactyly ( J:130575 )

• >90% of heterozygotes display hind-limb syndactyly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
oculodentodigital dysplasia		DOID:0060291	OMIM:164200 OMIM:257850	J:130575

Genotype
MGI:3807707

ht8

• Allelic Composition: Gja1^tm8.1Kwi/Gja1⁺
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:132032 )

• 54% lethality occurs between E14.5 and 16.5

Genotype
MGI:3620827

ht9

• Allelic Composition: Gja1^M1Jrt/Gja1⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J

mortality/aging

premature death ( J:101733 )

• seen in 46 of 170 heterozygotes; time not specified

cellular

increased granulosa cell apoptosis ( J:146211 )

♀ • TUNEL analysis indicated a significant increase of granulosa cell apoptosis in the antral follicles of mutant ovaries

decreased granulosa cell proliferation ( J:146211 )

♀ • mutant granulosa cells exhibit a reduced proliferation rate relative to wild-type cells

growth/size/body

abnormal tooth morphology ( J:101733 )

abnormal incisor morphology ( J:101733 )

• have small, white upper and lower incisors that are prone to breakage, instead of the normal yellow, enamel covered teeth

reduced enamel thickness ( J:101733 )

• very thin, porous enamel layer that is almost non-existent in some areas

brittle teeth ( J:101733 )

• lower incisors are prone to breakage

decreased body size ( J:101733 )

limbs/digits/tail

abnormal digit morphology ( J:101733 )

• digit 1 (pollex) on the forelimb consists of a thickened, malformed bone

abnormal phalanx morphology ( J:101733 )

• the middle phalange on the last digit of both the forelimb and hindlimb is absent

syndactyly ( J:101733 )

• variable fusion of digits 2, 3, and 4 on all limbs; fusion of soft tissue but not bone

skeleton

abnormal cranium morphology ( J:101733 )

• exhibit skull shape alterations, including, depression across the bridge of the nose and eye socket, and an outward displacement of the frontal and occipital bones

abnormal tooth morphology ( J:101733 )

abnormal incisor morphology ( J:101733 )

• have small, white upper and lower incisors that are prone to breakage, instead of the normal yellow, enamel covered teeth

reduced enamel thickness ( J:101733 )

• very thin, porous enamel layer that is almost non-existent in some areas

brittle teeth ( J:101733 )

• lower incisors are prone to breakage

abnormal phalanx morphology ( J:101733 )

• the middle phalange on the last digit of both the forelimb and hindlimb is absent

craniofacial

abnormal cranium morphology ( J:101733 )

• exhibit skull shape alterations, including, depression across the bridge of the nose and eye socket, and an outward displacement of the frontal and occipital bones

abnormal tooth morphology ( J:101733 )

abnormal incisor morphology ( J:101733 )

• have small, white upper and lower incisors that are prone to breakage, instead of the normal yellow, enamel covered teeth

reduced enamel thickness ( J:101733 )

• very thin, porous enamel layer that is almost non-existent in some areas

brittle teeth ( J:101733 )

• lower incisors are prone to breakage

cardiovascular system

abnormal myocardium layer morphology ( J:101733 )

• pronounced reduction in myocardial gap junctions

• exhibit small, multifocal lesions of myocardial mineralization

patent cardiac foramen ovale ( J:101733 )

• patent foramen ovale is seen in 2 of 5 mutants

cardiac fibrosis ( J:101733 )

• mild fibrosis

abnormal cardiac muscle contractility ( J:101733 )

• 2 of 9 exhibit abnormal cardiac conduction and/or contraction defects

decreased heart left ventricle muscle contractility ( J:101733 )

• 50-60 week old mutants exhibit elevated pre-ejection and ejection times of the left ventricle, increased diastolic chamber dilation, and reduced relative diastolic wall thickness

decreased heart right ventricle muscle contractility ( J:101733 )

• 50-60 week old mutants exhibit reduced right ventricular fractional shortening and diastolic wall thickness, suggesting development of right ventricular failure with aging

ventricular premature beat ( J:101733 )

• premature ventricular contractions (ectopic beats) occurred during 1-min ECG recording in one heterozygote

abnormal impulse conducting system conduction ( J:101733 )

• 2 of 9 exhibit abnormal cardiac conduction and/or contraction defects

prolonged PR interval ( J:101733 )

• prolonged PR interval and elevated myocardial performance index in one heterozygote

prolonged QRS complex duration ( J:101733 )

• prolonged QRS duration occurred during 1-min ECG recording in one heterozygote

heart inflammation ( J:101733 )

muscle

abnormal myocardium layer morphology ( J:101733 )

• pronounced reduction in myocardial gap junctions

• exhibit small, multifocal lesions of myocardial mineralization

abnormal cardiac muscle contractility ( J:101733 )

• 2 of 9 exhibit abnormal cardiac conduction and/or contraction defects

decreased heart left ventricle muscle contractility ( J:101733 )

• 50-60 week old mutants exhibit elevated pre-ejection and ejection times of the left ventricle, increased diastolic chamber dilation, and reduced relative diastolic wall thickness

decreased heart right ventricle muscle contractility ( J:101733 )

• 50-60 week old mutants exhibit reduced right ventricular fractional shortening and diastolic wall thickness, suggesting development of right ventricular failure with aging

vision/eye

abnormal iris morphology ( J:101733 )

• 2 of 4 mice that have corneal opacity also have iris malformations

irregularly shaped pupil ( J:101733 )

• seen in 2 of 4 mutants that have corneal opacity

cornea opacity ( J:101733 )

• seen in 4 of 16 mutants at 5-34 weeks of age

hematopoietic system

abnormal bone marrow cell morphology/development ( J:101733 )

• bone marrow atrophy and associated hypocellularity in conjunction with increased adipogenesis is seen in young mice (8 weeks) and progresses with age (17-51 weeks)

• frequency of most mature hematopoietic lineages and their progenitors within the bone marrow are increased

• bone marrow side population cells are increased 2.4-fold at 15 weeks of age and 3.5-fold at 57-62 weeks of age

decreased bone marrow cell number ( J:101733 )

• bone marrow hypocellularity

abnormal proerythroblast morphology ( J:101733 )

• erythroblasts and their progenitors are decreased in total number and frequency

immune system

heart inflammation ( J:101733 )

behavior/neurological

behavior/neurological phenotype ( J:101733 )

N • do not detect weakness of limbs or abnormal gait

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:101733 )

N • do not detect any hearing abnormalities

reproductive system

increased granulosa cell apoptosis ( J:146211 )

♀ • TUNEL analysis indicated a significant increase of granulosa cell apoptosis in the antral follicles of mutant ovaries

decreased granulosa cell proliferation ( J:146211 )

♀ • mutant granulosa cells exhibit a reduced proliferation rate relative to wild-type cells

abnormal ovary morphology ( J:146211 )

♀ • at P1, mutant ovaries contain normal numbers of germ cells; however, the numerous gap junction 'plaques' present in wild-type ovaries, are rarely found in mutant ovaries

abnormal granulosa cell morphology ( J:146211 )

♀ • mutant granulosa cells display aberrant phosphorylation and trafficking of Cx43 protein: whereas the abundance of total protein is not significantly altered, the phosphorylated P1 and P2 forms are significantly reduced, and very few gap junction plaques are observed

decreased mature ovarian follicle number ( J:146211 )

♀ • ovaries of sexually mature female mutants contain significantly fewer pre-ovulatory follicles at proestrus than wild-type females

♀ • however, no significant differences in the number of early antral follicles are observed

decreased superovulation rate ( J:146211 )

♀ • significantly fewer oocytes are collected from the oviducts of mutant females (19.6 +/- 9.5) relative to wild-type females (60.0 +/- 3.8) after priming with eCG and hCG

♀ • however, after in vitro fertilization, mutant oocytes are able to develop to the two-cell stage at a frequency similar to that of wild-type oocytes

♀ • in vitro, mutant oocytes are equally as competent as wild-type oocytes in undergoing the first meiotic division to produce the first polar body

reduced female fertility ( J:146211 )

♀ • the pregnancy rate of mutant females mated with wild-type males is significantly lower (23.5%) than that of wild-type females (83.9%)

decreased litter size ( J:146211 )

• after mating with wild-type males, mutant females show a significant reduction in mean litter size relative to wild-type females (3.0 +/- 0.2 vs 7.9 +/- 0.3 pups/litter, respectively)

• only ~16% of pups born to mutant females survive beyond P1, at least partly due to a existing lactation defect

endocrine/exocrine glands

increased granulosa cell apoptosis ( J:146211 )

♀ • TUNEL analysis indicated a significant increase of granulosa cell apoptosis in the antral follicles of mutant ovaries

decreased granulosa cell proliferation ( J:146211 )

♀ • mutant granulosa cells exhibit a reduced proliferation rate relative to wild-type cells

abnormal ovary morphology ( J:146211 )

♀ • at P1, mutant ovaries contain normal numbers of germ cells; however, the numerous gap junction 'plaques' present in wild-type ovaries, are rarely found in mutant ovaries

abnormal granulosa cell morphology ( J:146211 )

♀ • mutant granulosa cells display aberrant phosphorylation and trafficking of Cx43 protein: whereas the abundance of total protein is not significantly altered, the phosphorylated P1 and P2 forms are significantly reduced, and very few gap junction plaques are observed

decreased mature ovarian follicle number ( J:146211 )

♀ • ovaries of sexually mature female mutants contain significantly fewer pre-ovulatory follicles at proestrus than wild-type females

♀ • however, no significant differences in the number of early antral follicles are observed

abnormal lactation ( J:146211 )

♀

integument

abnormal lactation ( J:146211 )

♀

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
oculodentodigital dysplasia		DOID:0060291	OMIM:164200 OMIM:257850	J:101733

Genotype
MGI:3620841

ht10

• Allelic Composition: Gja1^M1Jrt/Gja1⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J * FVB/N

growth/size/body

decreased body size ( J:101733 )

• 22% smaller than wild-type at 7 weeks of age

skeleton

abnormal craniofacial bone morphology ( J:101733 )

• craniofacial bones are thin and porous with open foramena at 3 days and beyond, suggestive of an osteogenic defect

decreased bone mineral content ( J:101733 )

• reduction in bone mineral content

decreased bone mineral density ( J:101733 )

• reduction in bone mineral density

• all endochondrial bones are osteopenic

delayed bone ossification ( J:101733 )

• craniofacial bones originating from both mesoderm and neural crest display delayed ossification

decreased bone strength ( J:101733 )

• mechanical strength of bones is reduced; bones have low resistance to load owing to low stiffness, and are weak and ductile

cardiovascular system

decreased heart rate ( J:101733 )

irregular heartbeat ( J:101733 )

abnormal impulse conducting system conduction ( J:101733 )

• sporadically see sinus pause with atrioventricular dissociation and junctional escape

prolonged PR interval ( J:101733 )

• seen at 11-13 weeks of age, indicative of mild first degree atrioventricular block

prolonged P wave ( J:101733 )

• increase in P wave width

prolonged QRS complex duration ( J:101733 )

• sporadically exhibit widened QRS complex

craniofacial

abnormal craniofacial bone morphology ( J:101733 )

• craniofacial bones are thin and porous with open foramena at 3 days and beyond, suggestive of an osteogenic defect

endocrine/exocrine glands

abnormal ovary morphology ( J:101733 )

♀ • only a few scattered gap junction plaques are seen in the ovaries compared to wild-type and granulosa cells exhibit weak gap junction coupling

reproductive system

abnormal ovary morphology ( J:101733 )

♀ • only a few scattered gap junction plaques are seen in the ovaries compared to wild-type and granulosa cells exhibit weak gap junction coupling

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
oculodentodigital dysplasia		DOID:0060291	OMIM:164200 OMIM:257850	J:101733

Genotype
MGI:7545134

ht11

• Allelic Composition: Gja1^tm1Clo/Gja1⁺
• Genetic Background: Not Specified

normal phenotype

no abnormal phenotype detected ( J:253159 )

• mice are viable, fertile, and do not exhibit any overt congenital heart defects

Genotype
MGI:7545136

ht12

• Allelic Composition: Gja1^tm2Clo/Gja1⁺
• Genetic Background: Not Specified

normal phenotype

no abnormal phenotype detected ( J:253159 )

• mice are viable, fertile, and do not exhibit any overt congenital heart defects

Genotype
MGI:3652978

ht13

• Allelic Composition: Gja1^tm1.1Gfi/Gja1⁺
• Genetic Background: Not Specified

cardiovascular system

abnormal coronary artery morphology ( J:108525 )

• 2 of 5 mutants exhibit myocardial and septal coronary arteries originating from the same ostium on the aorta, rather than branching from a main coronary artery

Genotype
MGI:5441211

cn14

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

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

Genotype
MGI:3807710

cn15

• Allelic Composition: Gja1^tm8Kwi/Gja1⁺; Tg(Pgk1-cre)1Lni/0
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:132032 )

• 54% lethality occurs between E14.5 and 16.5

craniofacial

abnormal craniofacial morphology ( J:132032 )

• only males were tested

• observed in 70% of mutants

abnormal zygomatic arch morphology ( J:132032 )

• mutants have different angle of zygomatic arch relative to wild-type

abnormal tooth hard tissue morphology ( J:132032 )

• decreased enamel thickness in is observed as translucent teeth which wear faster with age

reduced enamel thickness ( J:132032 )

• 80% of mutants display enamel hypoplasia

small mandible ( J:132032 )

• mandible size in mutants is reduced compared to wild-type

abnormal nasal bone morphology ( J:132032 )

• some mice have differences in angle of nasal bone compared to wild-type

small face ( J:132032 )

• some mutants show obvious compactness of facial region

depressed nasal bridge ( J:132032 )

• depressed nasal bridge is seen in some mutants with craniofacial abnormalites

limbs/digits/tail

syndactyly ( J:132032 )

• 70% of mutants exhibit syndactyly (type III); this is observed in second, third, and fourth digits on all limbs

skeleton

abnormal skeleton morphology ( J:132032 )

• bone abnormalities were examined in males only

abnormal zygomatic arch morphology ( J:132032 )

• mutants have different angle of zygomatic arch relative to wild-type

abnormal tooth hard tissue morphology ( J:132032 )

• decreased enamel thickness in is observed as translucent teeth which wear faster with age

reduced enamel thickness ( J:132032 )

• 80% of mutants display enamel hypoplasia

small mandible ( J:132032 )

• mandible size in mutants is reduced compared to wild-type

abnormal nasal bone morphology ( J:132032 )

• some mice have differences in angle of nasal bone compared to wild-type

decreased bone mineral density ( J:132032 )

• osteopenia is observed in mutants

abnormal trabecular bone morphology ( J:132032 )

• trabecular spacing is increased; however, although trabecular thickness is not different, osteoblast number is not decreased significantly

decreased trabecular bone mass ( J:132032 )

• mutants have a reduction in trabecular bone mass

cellular

abnormal cell physiology ( J:132032 )

• cultured cells show 2-fold higher ATP release upon stimulation in calcium-free solution compared to wild-type cells

integument

sparse hair ( J:132032 )

• observed in 30% of mutants and becomes more pronounced with age

growth/size/body

abnormal tooth hard tissue morphology ( J:132032 )

• decreased enamel thickness in is observed as translucent teeth which wear faster with age

reduced enamel thickness ( J:132032 )

• 80% of mutants display enamel hypoplasia

abnormal nasal bone morphology ( J:132032 )

• some mice have differences in angle of nasal bone compared to wild-type

small face ( J:132032 )

• some mutants show obvious compactness of facial region

depressed nasal bridge ( J:132032 )

• depressed nasal bridge is seen in some mutants with craniofacial abnormalites

microcephaly ( J:132032 )

respiratory system

abnormal nasal bone morphology ( J:132032 )

• some mice have differences in angle of nasal bone compared to wild-type

depressed nasal bridge ( J:132032 )

• depressed nasal bridge is seen in some mutants with craniofacial abnormalites

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
oculodentodigital dysplasia		DOID:0060291	OMIM:164200 OMIM:257850	J:132032

Genotype
MGI:3807708

cn16

• Allelic Composition: Gja1^tm8Kwi/Gja1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:132032 )

N • deletion of Gja1 in early neurons does not affect survival of mice; number of mutants per litter and average litter size do not differ from expected

Genotype
MGI:3807709

cn17

• Allelic Composition: Gja1^tm8Kwi/Gja1⁺; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129S2/SvPas * FVB/N

mortality/aging

premature death ( J:132032 )

• mutants are born live die during initial 6.5 months after birth

lethality throughout fetal growth and development, incomplete penetrance ( J:132032 )

• 44% lethality occurs between E14.5 and 16.5

cardiovascular system

cardiovascular system phenotype ( J:132032 )

N • mice do not differ significantly from wild-type in left ventricular (lv) muscle mass, lv end-diastolic volume and lv ejection fraction

N • postnatally, mice do not differ significantly from wild-type in left ventricular (lv) muscle mass, lv end-diastolic volume and lv ejection fraction

ventricular tachycardia ( J:132032 )

• cardiac arrythmias are observed are observed after excorporation for ex vivo cardiac functional analyses including spontaneous and sustained ventricular tachycardias

irregular heartbeat ( J:132032 )

• cardiac arrythmias are observed are observed after excorporation for ex vivo cardiac functional analyses including spontaneous and sustained ventricular tachycardias

• in vivo, spontaneous arrhythmic events such as ventricular extra systole (VES) are observed; frequency and severity of such events increase with by hypoxic stimulation

abnormal heart electrocardiography waveform feature ( J:132032 )

• surface and intercardiac ECGs ex vivo show a broadening of the QRS complex and decrease in the R wave in ventricle activity indicating disturbed impulse propagation

prolonged QRS complex duration ( J:132032 )

abnormal R wave ( J:132032 )

• decrease in the R wave

abnormal myocardial fiber physiology ( J:132032 )

• isolated fetal cardiomyocytes show a 1.6-fold higher beating frequency than wild-type cells