All Phenotypes Rbfox2<tm1.1Dblk> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Rbfox1^tm1.1Dblk/Rbfox1^tm1.1Dblk Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Pcp2-cre)2Mpin/0	involves: 129 * C57BL/6J	MGI:5318257
cn2	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Pax3^tm1(cre)Joe/0 Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6J	MGI:7341523
cn3	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Pax3^tm1(cre)Joe/0	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6J	MGI:7341519
cn4	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J	MGI:7341522
cn5	Rbfox1^tm1.1Dblk/Rbfox1⁺ Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	MGI:5318256
cn6	Rbfox1^tm1.1Dblk/Rbfox1^tm1.1Dblk Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	MGI:5318255
cn7	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	MGI:5291910
cn8	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺ Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺	involves: 129S/Sv * 129X1/SvJ * C57BL/6J	MGI:7341534

Allelic Composition	Rbfox1^tm1.1Dblk/Rbfox1^tm1.1Dblk Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Pcp2-cre)2Mpin/0
Genetic Background	involves: 129 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbfox1^tm1.1Dblk mutation (1 available); any Rbfox1 mutation (33 available)
Rbfox2^tm1.1Dblk mutation (1 available); any Rbfox2 mutation (81 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)

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

behavior/neurological

behavior/neurological phenotype ( J:181631 )

N	• do not display ataxia

impaired coordination ( J:181631 )

• shorter mean latency to fall in the first trial and performance improves only slightly over subsequent trials

nervous system

nervous system phenotype ( J:181631 )

N	• do not display defects in cerebellar development

abnormal neuron physiology ( J:181631 )

• at P70, but not at P20, Purkinje cells show a decrease in firing frequency

• at P70 Purkinje cells show an increase in variability of firing

Allelic Composition	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Pax3^tm1(cre)Joe/0 Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo} mutation (10 available); any Gt(ROSA)26Sor mutation (993 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (50 available)
Rbfox2^tm1.1Dblk mutation (1 available); any Rbfox2 mutation (81 available)

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

embryo

embryo phenotype ( J:279139 )

N	• lineage-tracing analysis showed no apparent defects in cranial and cardiac neural crest cell migration

cellular

cellular phenotype ( J:279139 )

N	• lineage-tracing analysis showed no apparent defects in cranial and cardiac neural crest cell migration

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

mortality/aging

neonatal lethality, complete penetrance ( J:279139 )

• although embryos are present at expected Mendelian ratios from E10.5 to E18.5, all pups die at P1 from respiratory failure

• no live mice are recovered at P10

respiratory system

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E17.5

atelectasis ( J:279139 )

• lungs are hardly inflated at P1

respiratory distress ( J:279139 )

respiratory failure ( J:279139 )

embryo

abnormal rostral-caudal body axis extension ( J:279139 )

• shortened body axis at P1

craniofacial

abnormal craniofacial morphology ( J:279139 )

• severe craniofacial defects

abnormal craniofacial bone morphology ( J:279139 )

• severe hypoplasia and reduced ossification of many neural crest-derived bones at E17.5

• both the shape and size of most neural crest-derived bones including alisphenoid, premaxilla, palatal process of premaxilla, palatal process of maxilla and palatine are affected

abnormal neurocranium morphology ( J:279139 )

• reduced thickness of ossified calvaria at E17.5

abnormal frontal bone morphology ( J:279139 )

• frontal bones are hypoplastic and widely separated leaving a wide dorsal opening

frontal bone hypoplasia ( J:279139 )

small mandible ( J:279139 )

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E17.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E17.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E12.5, with a more pronounced reduction observed at E15.5

• no differences in apoptotic cell death or in E-caherin expression are observed in palatal shelves at E15.5

• primary palate development is normal

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis at E15.5 and E18.5

cleft secondary palate ( J:279139 )

• all fetuses (E15.5 and E18.5) and neonates show a secondary cleft palate defect

skeleton

abnormal axial skeleton morphology ( J:279139 )

• severe defects including a shortened axial skeleton at E17.5

abnormal craniofacial bone morphology ( J:279139 )

• severe hypoplasia and reduced ossification of many neural crest-derived bones at E17.5

• both the shape and size of most neural crest-derived bones including alisphenoid, premaxilla, palatal process of premaxilla, palatal process of maxilla and palatine are affected

abnormal neurocranium morphology ( J:279139 )

• reduced thickness of ossified calvaria at E17.5

abnormal frontal bone morphology ( J:279139 )

• frontal bones are hypoplastic and widely separated leaving a wide dorsal opening

frontal bone hypoplasia ( J:279139 )

small mandible ( J:279139 )

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E17.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E17.5

abnormal spine curvature ( J:279139 )

• vertebral column is rather straight in the cervical and thoracic region, positioning the skull and vertebral column perpendicular to each other at E17.5; likely due to ectopic bone formation and fusion of vertebral bodies

fusion of vertebral bodies ( J:279139 )

• fusion of vertebral bodies at E17.5

ectopic bone ( J:279139 )

• ectopic bone formation in the vertebral column at E17.5

decreased bone ossification ( J:279139 )

• reduced ossification of the nasal bone and many neural crest-derived bones at E17.5

nervous system

abnormal hypoglossal nerve morphology ( J:279139 )

• hypoglossal nerve (XII cranial nerve) appears disorganized and shorter at E10.5; the roots of the hypoglossal nerve are not fully developed

• in contrast, dorsal root ganglion size is normal

abnormal oculomotor nerve morphology ( J:279139 )

• oculomotor (III) appears deformed at E10.5

abnormal trochlear nerve morphology ( J:279139 )

• trochlear (IV) nerve appears deformed at E10.5

growth/size/body

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E17.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E17.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E12.5, with a more pronounced reduction observed at E15.5

• no differences in apoptotic cell death or in E-caherin expression are observed in palatal shelves at E15.5

• primary palate development is normal

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis at E15.5 and E18.5

cleft secondary palate ( J:279139 )

• all fetuses (E15.5 and E18.5) and neonates show a secondary cleft palate defect

small thoracic cavity ( J:279139 )

• smaller thoracic cavity at E17.5

digestive/alimentary system

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E17.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E12.5, with a more pronounced reduction observed at E15.5

• no differences in apoptotic cell death or in E-caherin expression are observed in palatal shelves at E15.5

• primary palate development is normal

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis at E15.5 and E18.5

cleft secondary palate ( J:279139 )

• all fetuses (E15.5 and E18.5) and neonates show a secondary cleft palate defect

integument

subcutaneous edema ( J:279139 )

• severe subcutaneous edema at E15.5 and E17.5

thin dermal layer ( J:279139 )

• thin dermal layer due to subcutaneous edema

homeostasis/metabolism

subcutaneous edema ( J:279139 )

• severe subcutaneous edema at E15.5 and E17.5

cardiovascular system

cardiovascular system phenotype ( J:279139 )

N	• no alterations in smooth muscle actin staining in the aortic arches and normal septation and alignment of the aorta and pulmonary trunk at E18.5, indicating normal cardiac outflow tract development

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:279139 )

N	• normal thymus and adrenal gland (chromaffin cells) morphology at E18.5

muscle

muscle phenotype ( J:279139 )

N	• normal forelimb musculature at E17.5 and at P1 • normal diaphragm musculature at E15.5 and E17.5

Allelic Composition	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^{Tg(Wnt1-cre)2Sor} mutation (2 available); any E2f1 mutation (28 available)
Rbfox2^tm1.1Dblk mutation (1 available); any Rbfox2 mutation (81 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:279139 )

• mice are born at the expected Mendelian ratio but die at P1

craniofacial

abnormal craniofacial bone morphology ( J:279139 )

• severe hypoplasia and reduced ossification of many neural crest-derived bones at E18.5

• both the shape and size of most neural crest-derived bones including alisphenoid, premaxilla, palatal process of premaxilla, palatal process of maxilla and palatine are affected

abnormal frontal bone morphology ( J:279139 )

• frontal bones are hypoplastic and widely separated leaving a wide dorsal opening

frontal bone hypoplasia ( J:279139 )

small mandible ( J:279139 )

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E18.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E18.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E15.5

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis

cleft secondary palate ( J:279139 )

• all fetuses show a secondary cleft palate defect at E15.5 and E18.5

skeleton

skeleton phenotype ( J:279139 )

N	• no apparent defects in the axial skeleton at E18.5

abnormal craniofacial bone morphology ( J:279139 )

• severe hypoplasia and reduced ossification of many neural crest-derived bones at E18.5

• both the shape and size of most neural crest-derived bones including alisphenoid, premaxilla, palatal process of premaxilla, palatal process of maxilla and palatine are affected

abnormal frontal bone morphology ( J:279139 )

• frontal bones are hypoplastic and widely separated leaving a wide dorsal opening

frontal bone hypoplasia ( J:279139 )

small mandible ( J:279139 )

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E18.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E18.5

decreased bone ossification ( J:279139 )

• reduced ossification of the nasal bone and many neural crest-derived bones at E18.5

growth/size/body

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E18.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E18.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E15.5

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis

cleft secondary palate ( J:279139 )

• all fetuses show a secondary cleft palate defect at E15.5 and E18.5

digestive/alimentary system

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E18.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E15.5

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis

cleft secondary palate ( J:279139 )

• all fetuses show a secondary cleft palate defect at E15.5 and E18.5

cardiovascular system

cardiovascular system phenotype ( J:279139 )

N	• no alterations in smooth muscle actin staining in the aortic arches and normal septation and alignment of the aorta and pulmonary trunk at E17.5, indicating normal cardiac outflow tract development

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:279139 )

N	• normal thymus and adrenal gland (chromaffin cells) morphology at E17.5

respiratory system

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E18.5

Allelic Composition	Rbfox1^tm1.1Dblk/Rbfox1⁺ Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

Find Mice

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

mortality/aging

postnatal lethality, complete penetrance ( J:181631 )

• euthanasia due to immobility by 3?4 weeks of age

nervous system

ectopic Purkinje cell ( J:181631 )

small cerebellum ( J:181631 )

abnormal neuron physiology ( J:181631 )

• Purkinje cells show a marked decrease in firing frequency

behavior/neurological

ataxia ( J:181631 )

• develop severe ataxia by 2 weeks of age becoming immobile by 3-4 weeks of age

growth/size/body

decreased body size ( J:181631 )

• very small

Allelic Composition	Rbfox1^tm1.1Dblk/Rbfox1^tm1.1Dblk Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

Find Mice

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

mortality/aging

perinatal lethality, complete penetrance ( J:181631 )

Allelic Composition	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbfox2^tm1.1Dblk mutation (1 available); any Rbfox2 mutation (81 available)
Tg(Nes-cre)1Kln mutation (4 available)

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

mortality/aging

lethality, incomplete penetrance ( J:181631 )

• mice that develop hydrocephalus require euthanasia

postnatal lethality, incomplete penetrance ( J:181631 )

• about 40% of males die by 1 month of age

nervous system

hydrocephaly ( J:181631 )

• some surviving mice (12 of 33) develop hydrocephalus at 8 - 12 weeks of age

increased Purkinje cell number ( J:181631 )

• about 20% more Purkinje cells per unit area at P5 in the cerebellum

• however, at later stages cell numbers do not differ

ectopic Purkinje cell ( J:181631 )

• more than 10% of the Purkinje cells are ectopically located in the internal granule cell layer at P10

thin cerebellar molecular layer ( J:181631 )

• at P10

small cerebellum ( J:181631 )

abnormal neuron physiology ( J:181631 )

• Purkinje cells show a moderate decrease in firing frequency

increased neuron apoptosis ( J:181631 )

• three fold increase in apoptosis per unit are at P5 in the cerebellum

abnormal Purkinje cell migration ( J:181631 )

• at E18 many Purkinje cells remain near their origin in the ventricular zone

decreased cerebellar granule cell precursor proliferation ( J:181631 )

• minor decrease in proliferation in the external granule cell layer

• marked reduction in proliferation in the internal granule cell layer

behavior/neurological

behavior/neurological phenotype ( J:176189 )

N	• mice exhibit normal susceptibility to spontaneous or induced seizures

abnormal posture ( J:181631 )

• worsens with age

abnormal locomotor activation ( J:181631 )

• impaired locomotion that worsens with age

growth/size/body

decreased body weight ( J:181631 )

• males weigh only 44% of wild-type males at P21

• females weigh only 59% of wild-type females at P21

cellular

increased neuron apoptosis ( J:181631 )

• three fold increase in apoptosis per unit are at P5 in the cerebellum

abnormal Purkinje cell migration ( J:181631 )

• at E18 many Purkinje cells remain near their origin in the ventricular zone

decreased cerebellar granule cell precursor proliferation ( J:181631 )

• minor decrease in proliferation in the external granule cell layer

• marked reduction in proliferation in the internal granule cell layer

Allelic Composition	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺ Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129S/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^{Tg(Wnt1-cre)2Sor} mutation (2 available); any E2f1 mutation (28 available)
Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo} mutation (10 available); any Gt(ROSA)26Sor mutation (993 available)
Rbfox2^tm1.1Dblk mutation (1 available); any Rbfox2 mutation (81 available)

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

embryo

embryo phenotype ( J:279139 )

N	• lineage-tracing analysis showed no apparent defects in cranial, cardiac and enteric neural crest cell migration

cellular

cellular phenotype ( J:279139 )

N	• lineage-tracing analysis showed no apparent defects in cranial, cardiac and enteric neural crest cell migration

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24