Phenotypes associated with this allele

• Allele Symbol: Snrpb^em1Lajm
• Allele Name: endonuclease-mediated mutation 1, Loydie Anne Jerome-Majewska
• Allele ID: MGI:7437928
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	E2f1^Tg(Wnt1-cre)2Sor/E2f1^+ Snrpb^em1Lajm/Snrpb^+ Trp53^tm1Brn/Trp53^+	involves: 129P2/OlaHsd * C3H * C57BL/6 * CD1	MGI:7438238
cn2	E2f1^Tg(Wnt1-cre)2Sor/E2f1^+ Snrpb^em1Lajm/Snrpb^+ Trp53^tm1Brn/Trp53^tm1Brn	involves: 129P2/OlaHsd * C3H * C57BL/6 * CD1	MGI:7438244
cn3	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Snrpb^em1Lajm/Snrpb^+ Tmem163^Tg(ACTB-cre)2Mrt/Tmem163^+	involves: 129S4/SvJaeSor * C57BL/6J * CD1 * FVB/N	MGI:7438186
cn4	E2f1^Tg(Wnt1-cre)2Sor/E2f1^+ Snrpb^em1Lajm/Snrpb^+	involves: C3H * C57BL/6 * C57BL/6J * CD1	MGI:7437965
cn5	Snrpb^em1Lajm/Snrpb^+ Tmem163^Tg(ACTB-cre)2Mrt/Tmem163^+	involves: C57BL/6J * CD1 * FVB/N	MGI:7437935

Genotype
MGI:7438238

cn1

• Allelic Composition: E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺; Snrpb^em1Lajm/Snrpb⁺; Trp53^tm1Brn/Trp53⁺
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD1

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

craniofacial

abnormal craniofacial morphology ( J:326544 )

• no reduction in craniofacial defects in conditional double mutant embryos at E10.5 and E17.5 compared to mutant embryos with wild-type levels of Trp53

Genotype
MGI:7438244

cn2

• Allelic Composition: E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺; Snrpb^em1Lajm/Snrpb⁺; Trp53^tm1Brn/Trp53^tm1Brn
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CD1

mortality/aging

perinatal lethality, complete penetrance ( J:326544 )

• pups born alive die between P1 and P2

• however, most pups do survive to birth unlike in mutant mice wild-type for Trp53

craniofacial

abnormal mandible morphology ( J:326544 )

• asymmetric and abnormal development of the lower jaw

micrognathia ( J:326544 )

• at E18.5

cleft palate ( J:326544 )

short snout ( J:326544 )

• at E18.5

skeleton

abnormal mandible morphology ( J:326544 )

• asymmetric and abnormal development of the lower jaw

micrognathia ( J:326544 )

• at E18.5

abnormal bone ossification ( J:326544 )

• reduced ossification of the frontal bone

growth/size/body

cleft palate ( J:326544 )

short snout ( J:326544 )

• at E18.5

microcephaly ( J:326544 )

• at E18.5

digestive/alimentary system

cleft palate ( J:326544 )

Genotype
MGI:7438186

cn3

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Snrpb^em1Lajm/Snrpb⁺; Tmem163^{Tg(ACTB-cre)2Mrt}/Tmem163⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CD1 * FVB/N

embryo

increased cranial neural crest cell apoptosis ( J:326544 )

• in the developing head region at E9.5

decreased cranial neural crest cell number ( J:326544 )

• decrease in the proportion of reporter expressing cells in the cranial region at E10.5 a some embryos

cellular

increased cranial neural crest cell apoptosis ( J:326544 )

• in the developing head region at E9.5

nervous system

decreased cranial neural crest cell number ( J:326544 )

• decrease in the proportion of reporter expressing cells in the cranial region at E10.5 a some embryos

Genotype
MGI:7437965

cn4

• Allelic Composition: E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺; Snrpb^em1Lajm/Snrpb⁺
• Genetic Background: involves: C3H * C57BL/6 * C57BL/6J * CD1

mortality/aging

neonatal lethality, complete penetrance ( J:326544 )

• no heterozygotes were found at P1 or P1 but 5 were found at P0

lethality throughout fetal growth and development, incomplete penetrance ( J:326544 )

• fewer than expected found at E14.5 and E17.5

skeleton

abnormal cranium morphology ( J:326544 )

abnormal metopic suture morphology ( J:326544 )

• heterotopic ossification in 1 pup at P0

basisphenoid bone hypoplasia ( J:326544 )

• in some embryos

• hypoplastic and asymmetric in 3 pups at P0

Meckel's cartilage hypoplasia ( J:326544 )

• at E14.5 and E17.5

frontal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

interparietal bone hypoplasia ( J:326544 )

• in 8 embryos at E14.5 and E17.5

parietal bone hypoplasia ( J:326544 )

• in 8 embryos at E14.5 and E17.5

absent alisphenoid bone ( J:326544 )

• at E14.5 and E17.5

abnormal temporal bone morphology ( J:326544 )

• absent at E14.5 and E17.5

small temporal bone squamous part ( J:326544 )

• in 3 pups

absent zygomatic arch ( J:326544 )

• fails to form in some embryos

absent hyoid bone ( J:326544 )

• hypoplastic or absent

hyoid bone hypoplasia ( J:326544 )

• hypoplastic or absent

abnormal jaw morphology ( J:326544 )

• distal ends are abnormally shaped

abnormal mandible morphology ( J:326544 )

• cleft in the mandible in 25% of embryos at E12.5

• mandible is bilaterally smaller and asymmetrical in some embryos at E14.5 and E17.5

• proximal elements are absent

absent mandibular angle ( J:326544 )

absent mandibular condyloid process ( J:326544 )

absent mandibular coronoid process ( J:326544 )

mandible hypoplasia ( J:326544 )

• hypoplastic and cleft at E14.5 in 4 of 12 embryos

abnormal premaxilla morphology ( J:326544 )

• clefts of the pre-maxillary cartilage and bone

• at P0 a single pup had a curved but closed premaxilla

maxilla hypoplasia ( J:326544 )

• hypoplastic and cleft at E14.5 in 4 of 12 embryos

nasal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

• also show clefts in the nasal cartilage and bones

domed cranium ( J:326544 )

• dome-shaped head in 3 of 12 at E14.5

abnormal tracheal cartilage morphology ( J:326544 )

• missing

ectopic cartilage ( J:326544 )

• ectopic unidentifiable cartilage and bones in the middle ear

ectopic bone ( J:326544 )

• ectopic unidentifiable cartilage and bones in the middle ear

endocrine/exocrine glands

athymia ( J:326544 )

• in 1 embryos at E17.5

cellular

abnormal DNA-templated transcription ( J:326544 )

• increase in exon skipping and intron retention in cells from heads of E9.0 embryos

cardiovascular system

absent aorticopulmonary septum ( J:326544 )

• fails to differentiate by E17.5 in one embryo

homeostasis/metabolism

edema ( J:326544 )

• in 19% of embryos at E12.5

• subepidermal edema in 4 of 12 of embryos at E14.5

digestive/alimentary system

cleft palate ( J:326544 )

• at E14.5 and E17.5

• a single pup at P0 had a cleft in the premaxilla and was missing the palatine shelves but no bony palate defects were found in 3 other pups

respiratory system

abnormal nose morphology ( J:326544 )

• nasal cleft in 3 of 12 embryos at E14.5

nasal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

• also show clefts in the nasal cartilage and bones

absent nasal septum ( J:326544 )

• in some embryos at E14.5

abnormal nasopharynx morphology ( J:326544 )

• the nasopharyngeal cavity is not formed in some embryos at E14.5

abnormal tracheal cartilage morphology ( J:326544 )

• missing

embryo

abnormal embryonic tissue morphology ( J:326544 )

• subepidermal swelling in 66% of embryos at E11.5

• at E17.5 no phenotypically normal embryos are found unlike at earlier time points

pharyngeal arch hypoplasia ( J:326544 )

• in 74% of embryos at E10.5

first pharyngeal arch hypoplasia ( J:326544 )

• in 66% of embryos at E11.5

• in 19% of embryos at E12.5

behavior/neurological

absent gastric milk in neonates ( J:326544 )

• in most neonates

nervous system

hindbrain hypoplasia ( J:326544 )

• in 35% and 74% of embryos at E9.5 and E10.5

midbrain hypoplasia ( J:326544 )

• in 35% and 74% of embryos at E9.5 and E10.5

• in 25% of embryos at E12.5

abnormal forebrain morphology ( J:326544 )

• swelling in 66% at E11.5

• abnormal in 25% of embryos at E12.5

enlarged lateral ventricles ( J:326544 )

• at E14.5 and E17.5 in 1 embryo at each age

thin cerebral cortex ( J:326544 )

• at E14.5 and E17.5 in 1 embryo at each age

abnormal cranial ganglia morphology ( J:326544 )

• reduced in size with abnormal projections into the pharyngeal arches at E10.5 in some embryos

abnormal geniculate ganglion morphology ( J:326544 )

• the proximal portion is thicker

abnormal vestibular ganglion morphology ( J:326544 )

• the proximal portion is thicker

abnormal glossopharyngeal nerve morphology ( J:326544 )

• thicker in the proximal region before the pharyngeal arch, has an ectopic projection into pharyngeal arch 2, and reduced projection into pharyngeal arch 3

abnormal trigeminal nerve morphology ( J:326544 )

• ectopic projection

abnormal mandibular nerve morphology ( J:326544 )

• reduced and appears to have formed ventral to the first arch at E10.5 in some embryos

abnormal maxillary nerve morphology ( J:326544 )

• disorganized and missing at E10.5 in some embryos

abnormal ophthalmic nerve morphology ( J:326544 )

• reduced and fails to extend over the lens at E10.5 in some embryos

abnormal vagus nerve morphology ( J:326544 )

• abnormal bundle at the distal end with reduced projections into the heart

small dorsal root ganglion ( J:326544 )

• small and bifurcated at the proximal end

hearing/vestibular/ear

small ears ( J:326544 )

• in 4 of 5 neonates

• in 3 of 12 embryos at E14.5

absent tympanic ring ( J:326544 )

craniofacial

abnormal cranium morphology ( J:326544 )

abnormal metopic suture morphology ( J:326544 )

• heterotopic ossification in 1 pup at P0

basisphenoid bone hypoplasia ( J:326544 )

• in some embryos

• hypoplastic and asymmetric in 3 pups at P0

Meckel's cartilage hypoplasia ( J:326544 )

• at E14.5 and E17.5

frontal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

interparietal bone hypoplasia ( J:326544 )

• in 8 embryos at E14.5 and E17.5

parietal bone hypoplasia ( J:326544 )

• in 8 embryos at E14.5 and E17.5

absent alisphenoid bone ( J:326544 )

• at E14.5 and E17.5

abnormal temporal bone morphology ( J:326544 )

• absent at E14.5 and E17.5

small temporal bone squamous part ( J:326544 )

• in 3 pups

absent zygomatic arch ( J:326544 )

• fails to form in some embryos

absent hyoid bone ( J:326544 )

• hypoplastic or absent

hyoid bone hypoplasia ( J:326544 )

• hypoplastic or absent

abnormal jaw morphology ( J:326544 )

• distal ends are abnormally shaped

abnormal mandible morphology ( J:326544 )

• cleft in the mandible in 25% of embryos at E12.5

• mandible is bilaterally smaller and asymmetrical in some embryos at E14.5 and E17.5

• proximal elements are absent

absent mandibular angle ( J:326544 )

absent mandibular condyloid process ( J:326544 )

absent mandibular coronoid process ( J:326544 )

mandible hypoplasia ( J:326544 )

• hypoplastic and cleft at E14.5 in 4 of 12 embryos

abnormal premaxilla morphology ( J:326544 )

• clefts of the pre-maxillary cartilage and bone

• at P0 a single pup had a curved but closed premaxilla

maxilla hypoplasia ( J:326544 )

• hypoplastic and cleft at E14.5 in 4 of 12 embryos

domed cranium ( J:326544 )

• dome-shaped head in 3 of 12 at E14.5

abnormal frontonasal prominence morphology ( J:326544 )

• cleft in the frontonasal prominence in 25% of embryos at E12.5

absent frontonasal prominence ( J:326544 )

• in 66% of embryos at E11.5

frontonasal prominence hypoplasia ( J:326544 )

• at E10.5

• hypoplastic and cleft at E12.5 in 25% of embryos

• hypoplastic and cleft frontonasal region in 4 of 12 embryos at E14.5

mandibular prominence hypoplasia ( J:326544 )

• in 74% of embryos at E10.5

absent maxillary prominence ( J:326544 )

• in 66% of embryos at E11.5

maxillary prominence hypoplasia ( J:326544 )

• in 74% of embryos at E10.5

• hypoplastic and cleft in 25% of embryos at E12.5

pharyngeal arch hypoplasia ( J:326544 )

• in 74% of embryos at E10.5

first pharyngeal arch hypoplasia ( J:326544 )

• in 66% of embryos at E11.5

• in 19% of embryos at E12.5

cleft palate ( J:326544 )

• at E14.5 and E17.5

• a single pup at P0 had a cleft in the premaxilla and was missing the palatine shelves but no bony palate defects were found in 3 other pups

abnormal nose morphology ( J:326544 )

• nasal cleft in 3 of 12 embryos at E14.5

nasal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

• also show clefts in the nasal cartilage and bones

absent nasal septum ( J:326544 )

• in some embryos at E14.5

short snout ( J:326544 )

• in 4 of 5 neonates

abnormal head shape ( J:326544 )

• in 4 of 5 neonates

small ears ( J:326544 )

• in 4 of 5 neonates

• in 3 of 12 embryos at E14.5

growth/size/body

cleft palate ( J:326544 )

• at E14.5 and E17.5

• a single pup at P0 had a cleft in the premaxilla and was missing the palatine shelves but no bony palate defects were found in 3 other pups

abnormal nose morphology ( J:326544 )

• nasal cleft in 3 of 12 embryos at E14.5

nasal bone hypoplasia ( J:326544 )

• at E14.5 and E17.5 in 5 embryos

• also show clefts in the nasal cartilage and bones

absent nasal septum ( J:326544 )

• in some embryos at E14.5

short snout ( J:326544 )

• in 4 of 5 neonates

abnormal head shape ( J:326544 )

• in 4 of 5 neonates

small ears ( J:326544 )

• in 4 of 5 neonates

• in 3 of 12 embryos at E14.5

abnormal head development ( J:326544 )

• absence of the ventral portion of the head and face in 19% of embryos at E12.5

• absence of the ventral portion of the head and face in 4 of 12 embryos at E14.5

• many neural crest derived bones and cartilages are hypoplastic or missing in embryos at E14.5 and E17.5

immune system

athymia ( J:326544 )

• in 1 embryos at E17.5

hematopoietic system

athymia ( J:326544 )

• in 1 embryos at E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebrocostomandibular syndrome		DOID:0111248	OMIM:117650	J:326544

Genotype
MGI:7437935

cn5

• Allelic Composition: Snrpb^em1Lajm/Snrpb⁺; Tmem163^{Tg(ACTB-cre)2Mrt}/Tmem163⁺
• Genetic Background: involves: C57BL/6J * CD1 * FVB/N

mortality/aging

prenatal lethality, complete penetrance ( J:326544 )

• no heterozygotes are found at birth but are present at E8.5