Phenotypes associated with this allele

• Allele Symbol: Mef2c^tm1Jjs
• Allele Name: targeted mutation 1, John J Schwarz
• Allele ID: MGI:3603182
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Mef2c^tm1Jjs/Mef2c^tm1Jjs Mir223^tm1Fcam/Mir223^tm1Fcam Lyz2^tm1(cre)Ifo/Lyz2^+	involves: 129 * C57BL/6	MGI:3811199
cn2	Mef2c^tm1Eno/Mef2c^tm1Jjs Myl2^tm1(cre)Krc/Myl2^+	involves: 129S4/SvJae * 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3613581
cn3	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Mef2c^tm1Eno/Mef2c^tm1Jjs H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:6209743
cn4	Mef2c^tm1Eno/Mef2c^tm1Jjs Tg(Myh6-cre)2182Mds/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N	MGI:3613580
cn5	Mef2c^tm1Eno/Mef2c^tm1Jjs H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:6209712
cn6	Mef2c^tm1Jjs/Mef2c^tm1Jjs Tg(Slc5a2-cre)1Tauc/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:4440912
cn7	Mef2a^tm1.1Limm/Mef2a^tm1.1Limm Mef2c^tm1Jjs/Mef2c^tm1Jjs Tg(Cdh5-cre/ERT2)1Rha/0	involves: 129S/SvEv * 129S6/SvEvTac	MGI:7447283

Genotype
MGI:3811199

cn1

• Allelic Composition: Mef2c^tm1Jjs/Mef2c^tm1Jjs; Mir223^tm1Fcam/Mir223^tm1Fcam; Lyz2^tm1(cre)Ifo/Lyz2⁺
• Genetic Background: involves: 129 * C57BL/6

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

immune system

abnormal neutrophil differentiation ( J:140009 )

♀ • neutrophils exhibit an unusual hypermature morphology characterized by nuclear hypersegmentation and blebbing

increased neutrophil cell number ( J:140009 )

♀ • neutrophil numbers are normal in these mice unlike the increased numbers observed in Mirn223^tm1Fcam homozygotes

abnormal neutrophil physiology ( J:140009 )

♀ • neutorphils are hypersensitive to activating stimuli

♀ • neutrophils have higher oxidative burst than controls upon low-dose PMA stimulation

♀ • neutrophils display higher killing when co-cultured with Candida albicans

hematopoietic system

abnormal neutrophil differentiation ( J:140009 )

♀ • neutrophils exhibit an unusual hypermature morphology characterized by nuclear hypersegmentation and blebbing

increased neutrophil cell number ( J:140009 )

♀ • neutrophil numbers are normal in these mice unlike the increased numbers observed in Mirn223^tm1Fcam homozygotes

abnormal neutrophil physiology ( J:140009 )

♀ • neutorphils are hypersensitive to activating stimuli

♀ • neutrophils have higher oxidative burst than controls upon low-dose PMA stimulation

♀ • neutrophils display higher killing when co-cultured with Candida albicans

cellular

abnormal neutrophil differentiation ( J:140009 )

♀ • neutrophils exhibit an unusual hypermature morphology characterized by nuclear hypersegmentation and blebbing

Genotype
MGI:3613581

cn2

• Allelic Composition: Mef2c^tm1Eno/Mef2c^tm1Jjs; Myl2^tm1(cre)Krc/Myl2⁺
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * 129S7/SvEvBrd

normal phenotype

no abnormal phenotype detected ( J:100949 )

• no defects in heart or body weight parameters or in electrocardiogram analyses are seen in mice between 14 and 40 weeks of age

• suggests that this gene is not required for development or function of the heart after the looping morphogenesis stage

Genotype
MGI:6209743

cn3

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Mef2c^tm1Eno/Mef2c^tm1Jjs; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J

embryo

embryo phenotype ( J:122483 )

N • X-Gal staining of E9.5 embryos showed no obvious defects in neural crest contribution to the branchial arches or craniofacial mesenchyme relative to control embryos

Genotype
MGI:3613580

cn4

• Allelic Composition: Mef2c^tm1Eno/Mef2c^tm1Jjs; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N

normal phenotype

no abnormal phenotype detected ( J:100949 )

• no defects in heart or body weight parameters or in electrocardiogram analyses are seen in mice between 14 and 40 weeks of age

• suggests that this gene is not required for development or function of the heart after the looping morphogenesis stage

Genotype
MGI:6209712

cn5

• Allelic Composition: Mef2c^tm1Eno/Mef2c^tm1Jjs; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:122483 )

• mice are born at normal ratios and are responsive to touch; however, all mice die from asphyxiation caused by upper airway obstruction within an hr of birth

• tracheostomy results in recovery from cyanosis and restoration of viability prior to humane euthanasia

homeostasis/metabolism

cyanosis ( J:122483 )

• mice become cyanotic soon after birth

respiratory system

abnormal respiratory system morphology ( J:122483 )

• at P0, the upper airway is constricted/obstructed, unlike in control mice

craniofacial

temporal bone hypoplasia ( J:122483 )

zygomatic arch hypoplasia ( J:122483 )

abnormal mandibular angle morphology ( J:122483 )

• at P0, the angular processes of the mandibles are severely hypoplastic

mandibular condyloid process hypoplasia ( J:122483 )

• at P0, the condular processes of the mandibles are severely hypoplastic

mandibular coronoid process hypoplasia ( J:122483 )

• at P0, the coronoid processes of the mandibles are severely hypoplastic

mandible hypoplasia ( J:122483 )

short mandible ( J:122483 )

• at P0, the mandible is markedly shorter

abnormal craniofacial development ( J:122483 )

• neonatal skulls display several defective or missing craniofacial structures

• defects in craniofacial development are observed as early as E13.5

• however, no obvious changes are observed in proliferation or apoptosis at E9.5 or E10.5

Meckel's cartilage hypoplasia ( J:122483 )

• at E16.5, embryos exhibit a hypoplastic Meckels cartilage; hypoplasia is already evident at E13.5, i.e. prior to the onset of ossification

abnormal pharyngeal arch morphology ( J:122483 )

• at E9.5, expression of Dlx5, Dlx6, and Hand2 is almost completely absent in the first and second branchial arches relative to control embryos

• however, Prx1 expression is normal, indicating that overall branchial arch development is not defective at E9.5

cleft palate ( J:122483 )

• all newborns exhibit a posterior cleft of the palate

glossoptosis ( J:122483 )

• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

skeleton

Meckel's cartilage hypoplasia ( J:122483 )

• at E16.5, embryos exhibit a hypoplastic Meckels cartilage; hypoplasia is already evident at E13.5, i.e. prior to the onset of ossification

temporal bone hypoplasia ( J:122483 )

zygomatic arch hypoplasia ( J:122483 )

abnormal mandibular angle morphology ( J:122483 )

• at P0, the angular processes of the mandibles are severely hypoplastic

mandibular condyloid process hypoplasia ( J:122483 )

• at P0, the condular processes of the mandibles are severely hypoplastic

mandibular coronoid process hypoplasia ( J:122483 )

• at P0, the coronoid processes of the mandibles are severely hypoplastic

mandible hypoplasia ( J:122483 )

short mandible ( J:122483 )

• at P0, the mandible is markedly shorter

delayed bone ossification ( J:122483 )

• at E16.5, embryos exhibit a hypoplastic Meckels cartilage and delayed ossification in the mandible and maxilla relative to control mice

growth/size/body

abnormal head morphology ( J:122483 )

• all newborns exhibit misshapen heads

cleft palate ( J:122483 )

• all newborns exhibit a posterior cleft of the palate

glossoptosis ( J:122483 )

• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

pigmentation

abnormal melanocyte differentiation ( J:173609 )

• embryos show reduced expression of the melanocyte markers Pmel17, Mitf and Dct in multiple regions during embryonic/fetal development

abnormal dermal melanocyte morphology ( J:173609 )

• newborn mice show a significant reduction in the number of DOPA-stained follicular and interfollicular melanocytes in the dermis relative to control mice

• few remaining dermal melanocytes have significantly fewer melanosomes than melanocytes in control mice

abnormal epidermal melanocyte morphology ( J:173609 )

• newborn mice exhibit significantly fewer DOPA-stained follicular melanocytes in the epidermis than control mice

decreased skin pigmentation ( J:173609 )

• mice exhibit significant loss of pigmentation at birth

decreased melanocyte number ( J:173609 )

• DOPA staining of neonatal skin tissue shows a significant reduction in the number of melanocytes in epidermis and dermis relative to control mice

• in neonatal epidermis, the number of DOPA-stained melanocytes is reduced by 87% relative to control mice

• at E12.5, embryos show only 69% as many Dct-labeled melanocytes in the interlimb region as control embryos

• however, no differences in TUNEL staining or in BrdU incorporation are noted from E11.5 to E18.5

abnormal melanosome morphology ( J:173609 )

• newborn mice exhibit a 65% reduction in the number of melanosomes in dermal melanocytes relative to control mice

integument

abnormal dermal melanocyte morphology ( J:173609 )

• newborn mice show a significant reduction in the number of DOPA-stained follicular and interfollicular melanocytes in the dermis relative to control mice

• few remaining dermal melanocytes have significantly fewer melanosomes than melanocytes in control mice

abnormal epidermal melanocyte morphology ( J:173609 )

• newborn mice exhibit significantly fewer DOPA-stained follicular melanocytes in the epidermis than control mice

decreased skin pigmentation ( J:173609 )

• mice exhibit significant loss of pigmentation at birth

hearing/vestibular/ear

absent tympanic ring ( J:122483 )

digestive/alimentary system

cleft palate ( J:122483 )

• all newborns exhibit a posterior cleft of the palate

glossoptosis ( J:122483 )

• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

cellular

abnormal melanocyte differentiation ( J:173609 )

• embryos show reduced expression of the melanocyte markers Pmel17, Mitf and Dct in multiple regions during embryonic/fetal development

embryo

abnormal pharyngeal arch morphology ( J:122483 )

• at E9.5, expression of Dlx5, Dlx6, and Hand2 is almost completely absent in the first and second branchial arches relative to control embryos

• however, Prx1 expression is normal, indicating that overall branchial arch development is not defective at E9.5

nervous system

nervous system phenotype ( J:173609 )

N • no obvious defects in peripheral or enteric innervation are detected at birth

Genotype
MGI:4440912

cn6

• Allelic Composition: Mef2c^tm1Jjs/Mef2c^tm1Jjs; Tg(Slc5a2-cre)1Tauc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

renal/urinary system

increased kidney cell proliferation ( J:158762 )

• cell proliferation in kidneys is elevated compared to in wild-type kidneys

kidney cortex cyst ( J:158762 )

• at 5 months, 9 of 12 mice exhibit small bilateral cysts with flat lining cells unlike wild-type mice

• mice exhibit small glomerular cysts unlike wild-type mice

dilated renal tubule ( J:158762 )

• in 9 of 12 mice at 5 months

dilated distal convoluted tubule ( J:158762 )

• in 9 of 12 mice at 5 months

dilated proximal convoluted tubule ( J:158762 )

• in 9 of 12 mice at 5 months

cellular

increased kidney cell proliferation ( J:158762 )

• cell proliferation in kidneys is elevated compared to in wild-type kidneys

growth/size/body

kidney cortex cyst ( J:158762 )

• at 5 months, 9 of 12 mice exhibit small bilateral cysts with flat lining cells unlike wild-type mice

• mice exhibit small glomerular cysts unlike wild-type mice

Genotype
MGI:7447283

cn7

• Allelic Composition: Mef2a^tm1.1Limm/Mef2a^tm1.1Limm; Mef2c^tm1Jjs/Mef2c^tm1Jjs; Tg(Cdh5-cre/ERT2)1Rha/0
• Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac

cardiovascular system

abnormal retina vasculature morphology ( J:334208 )

• reduced sprouting angiogenesis in retina at age P5 (4 days after endothelial-cell-specific KO induction): reduced vascular density and coverage in vascular plexus and reduced number of tip cells at angiogenic front

decreased angiogenesis ( J:334208 )

• reduced sprouting angiogenesis in retina at age P5 (4 days after endothelial-cell-specific KO induction): reduced vascular density and coverage in vascular plexus and reduced number of tip cells at angiogenic front

vision/eye

abnormal retina vasculature morphology ( J:334208 )

• reduced sprouting angiogenesis in retina at age P5 (4 days after endothelial-cell-specific KO induction): reduced vascular density and coverage in vascular plexus and reduced number of tip cells at angiogenic front