Phenotypes associated with this allele

• Allele Symbol: Mn1^tm1Ecz
• Allele Name: targeted mutation 1, Ellen C Zwarthoff
• Allele ID: MGI:3580381
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mn1^tm1Ecz/Mn1^tm1Ecz	FVB.129-Mn1^tm1Ecz	MGI:3581200
ht2	Mn1^tm1Ecz/Mn1^+	FVB.129-Mn1^tm1Ecz	MGI:3581210

Genotype
MGI:3581200

hm1

• Allelic Composition: Mn1^tm1Ecz/Mn1^tm1Ecz
• Genetic Background: FVB.129-Mn1^tm1Ecz

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

mortality/aging

perinatal lethality, complete penetrance ( J:98889 )

• died at birth or within the first 10 hours

craniofacial

abnormal frontal bone morphology ( J:98889 )

• very thin and less mineralized

thin frontal bone ( J:98889 )

• very thin

abnormal interparietal bone morphology ( J:98889 )

• very thin and less mineralized

thin interparietal bone ( J:98889 )

• very thin

abnormal supraoccipital bone morphology ( J:98889 )

• delayed formation of supraoccipital bone

abnormal parietal bone morphology ( J:98889 )

• very thin and less mineralized

thin parietal bone ( J:98889 )

• very thin

abnormal sphenoid bone morphology ( J:98889 )

basisphenoid bone hypoplasia ( J:98889 )

absent alisphenoid bone ( J:98889 )

presphenoid bone hypoplasia ( J:98889 )

• hypoplastic presphenoid bones; however, normal appendicular skeleton, axial skeleton (below the skull) and internal organs are present

abnormal pterygoid process morphology ( J:98889 )

• incorrectly formed pterygoid bones

absent temporal bone squamous part ( J:98889 )

maxillary shelf hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine)

palatine bone horizontal plate hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine)

• mandible and maxilla appear normal

absent vomer bone ( J:98889 )

palatal shelves fail to meet at midline ( J:98889 )

• the palatal shelves were far apart and had not fused, resulting in a connection between the nasal and oral cavities, however molars were correctly formed

cleft secondary palate ( J:98889 )

skeleton

abnormal frontal bone morphology ( J:98889 )

• very thin and less mineralized

thin frontal bone ( J:98889 )

• very thin

abnormal interparietal bone morphology ( J:98889 )

• very thin and less mineralized

thin interparietal bone ( J:98889 )

• very thin

abnormal supraoccipital bone morphology ( J:98889 )

• delayed formation of supraoccipital bone

abnormal parietal bone morphology ( J:98889 )

• very thin and less mineralized

thin parietal bone ( J:98889 )

• very thin

abnormal sphenoid bone morphology ( J:98889 )

basisphenoid bone hypoplasia ( J:98889 )

absent alisphenoid bone ( J:98889 )

presphenoid bone hypoplasia ( J:98889 )

• hypoplastic presphenoid bones; however, normal appendicular skeleton, axial skeleton (below the skull) and internal organs are present

abnormal pterygoid process morphology ( J:98889 )

• incorrectly formed pterygoid bones

absent temporal bone squamous part ( J:98889 )

maxillary shelf hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine)

palatine bone horizontal plate hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine)

• mandible and maxilla appear normal

absent vomer bone ( J:98889 )

respiratory system

respiratory distress ( J:98889 )

• subset of pups died following birth because they failed to start breathing, however lungs were normal

behavior/neurological

lethargy ( J:98889 )

• the subset of pups that did not suckle, were lethargic, became cyanotic and died

abnormal suckling behavior ( J:98889 )

• subset of pups did not suckle (had empty stomachs)

homeostasis/metabolism

cyanosis ( J:98889 )

• the subset of pups that did not suckle became cyanotic and subsequently died

digestive/alimentary system

maxillary shelf hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine)

palatine bone horizontal plate hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine)

• mandible and maxilla appear normal

palatal shelves fail to meet at midline ( J:98889 )

• the palatal shelves were far apart and had not fused, resulting in a connection between the nasal and oral cavities, however molars were correctly formed

cleft secondary palate ( J:98889 )

growth/size/body

maxillary shelf hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine)

palatine bone horizontal plate hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine)

• mandible and maxilla appear normal

palatal shelves fail to meet at midline ( J:98889 )

• the palatal shelves were far apart and had not fused, resulting in a connection between the nasal and oral cavities, however molars were correctly formed

cleft secondary palate ( J:98889 )

Genotype
MGI:3581210

ht2

• Allelic Composition: Mn1^tm1Ecz/Mn1⁺
• Genetic Background: FVB.129-Mn1^tm1Ecz

mortality/aging

neonatal lethality, incomplete penetrance ( J:98889 )

• 15% died at birth or shortly thereafter

craniofacial

abnormal cranial suture morphology ( J:98889 )

• delayed suture formation between the squamosal and alisphenoid bones at E18.5, with a less dense bone within these sutures and larger foramen ovale and foramen rotundum

basisphenoid bone hypoplasia ( J:98889 )

large cranial foramen ovale ( J:98889 )

• larger foramen ovale

large foramen rotundum ( J:98889 )

• larger foramen rotundum

alisphenoid bone hypoplasia ( J:98889 )

presphenoid bone hypoplasia ( J:98889 )

pterygoid bone hypoplasia ( J:98889 )

temporal bone hypoplasia ( J:98889 )

vomer bone hypoplasia ( J:98889 )

• hypoplastic

palate bone hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine processes)

• the mandible and maxilla appear normal

cleft secondary palate ( J:98889 )

• the 15% of heterozygotes that died had cleft secondary palate, but the defects were less severe than in homozygotes

• E15.5 and E16.5 embryos had a closed palate, while E17.5 embryos had a cleft palate

skeleton

abnormal cranial suture morphology ( J:98889 )

• delayed suture formation between the squamosal and alisphenoid bones at E18.5, with a less dense bone within these sutures and larger foramen ovale and foramen rotundum

basisphenoid bone hypoplasia ( J:98889 )

large cranial foramen ovale ( J:98889 )

• larger foramen ovale

large foramen rotundum ( J:98889 )

• larger foramen rotundum

alisphenoid bone hypoplasia ( J:98889 )

presphenoid bone hypoplasia ( J:98889 )

pterygoid bone hypoplasia ( J:98889 )

temporal bone hypoplasia ( J:98889 )

vomer bone hypoplasia ( J:98889 )

• hypoplastic

palate bone hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine processes)

• the mandible and maxilla appear normal

neoplasm

neoplasm ( J:98889 )

N • surviving heterozygous mice showed no differences in the number of tumors formed compared to wildtype

digestive/alimentary system

palate bone hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine processes)

• the mandible and maxilla appear normal

cleft secondary palate ( J:98889 )

• the 15% of heterozygotes that died had cleft secondary palate, but the defects were less severe than in homozygotes

• E15.5 and E16.5 embryos had a closed palate, while E17.5 embryos had a cleft palate

growth/size/body

palate bone hypoplasia ( J:98889 )

• hypoplastic bone growth within the palatal shelves (both maxillary and palatine processes)

• the mandible and maxilla appear normal

cleft secondary palate ( J:98889 )

• the 15% of heterozygotes that died had cleft secondary palate, but the defects were less severe than in homozygotes

• E15.5 and E16.5 embryos had a closed palate, while E17.5 embryos had a cleft palate