Phenotypes associated with this allele

• Allele Symbol: Memo1^m1Will
• Allele Name: mutation 1, Trevor Williams
• Allele ID: MGI:5648811
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Memo1^m1Will/Memo1^m1Will	involves: 129S1/SvImJ * C57BL/6J	MGI:6400478

Genotype
MGI:6400478

hm1

• Allelic Composition: Memo1^m1Will/Memo1^m1Will
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis ( J:233609 )

• Background Sensitivity: in mice on a >95% 129S1/SvImJ lethality is seen around E12.5 and E14.5 but not in mice on a mixed C57BL/6J and 129S1/SvImJ background

preweaning lethality, complete penetrance ( J:233609 )

• Background Sensitivity: mice survive to birth on a mixed C57BL/6J and 129S1/SvImJ background but when crossed into a greater than 95% 129S1/SvImJ background no homozygous pups are found at E18.5

craniofacial

abnormal craniofacial bone morphology ( J:233609 )

• the two small bones that form from the hypochiasmatic cartilages flanking the presphenoid bone are absent

abnormal cranium morphology ( J:233609 )

• downward positioned cranium

abnormal cranial cartilage development ( J:233609 )

• at E15.5 progression of hypertrophic chondrocytes is slightly perturbed with cells appearing less hypertrophic compared to controls

• at E18.5 the defects in cartilage to bone progression becomes more evident

• at E18.5 the hypertrophic chondrocyte zone is elongated and matrix deposition is reduced

abnormal neurocranium morphology ( J:233609 )

• bones are more widely separated and appear less ossified overall

basioccipital bone hypoplasia ( J:233609 )

• hypoplasia correlates with extent of neural crest origin

• only slightly affected

basisphenoid bone hypoplasia ( J:233609 )

• hypoplasia correlates with extent of neural crest origin

• very hypoplastic

presphenoid bone hypoplasia ( J:233609 )

• hypoplasia correlates with extent of neural crest origin

• often absent

absent maxillary shelf ( J:233609 )

premaxilla hypoplasia ( J:233609 )

maxilla hypoplasia ( J:233609 )

absent palatine bone horizontal plate ( J:233609 )

domed cranium ( J:233609 )

palate bone hypoplasia ( J:233609 )

cleft palate ( J:233609 )

• fully penetrant

failure of palatal shelf elevation ( J:233609 )

• fail to elevate by E14.5 in both the anterior and posterior positions

abnormal nasal bridge morphology ( J:233609 )

• misshapen

cardiovascular system

decreased angiogenesis ( J:233609 )

• reduced vascular invasion into the hypertrophic zone of cartilage in the basisohenoid bone matrix

abnormal vasculogenesis ( J:233609 )

• Background Sensitivity: vasculogenesis defects develop on mice with a >95% 129S1/SvImJ background but not in mice on a mixed C57BL/6J and 129S1/SvImJ background

• disorganized blood vessel formation

hemorrhage ( J:233609 )

• general hemorrhaging seen in mice with a >95% 129S1/SvImJ background but not in mice on a mixed C57BL/6J and 129S1/SvImJ background

homeostasis/metabolism

generalized edema ( J:233609 )

• Background Sensitivity: general edema seen in mice with a >95% 129S1/SvImJ background but not in mice on a mixed C57BL/6J and 129S1/SvImJ background

behavior/neurological

absent gastric milk in neonates ( J:233609 )

• consistent with cleft palate

digestive/alimentary system

absent maxillary shelf ( J:233609 )

absent palatine bone horizontal plate ( J:233609 )

palate bone hypoplasia ( J:233609 )

cleft palate ( J:233609 )

• fully penetrant

failure of palatal shelf elevation ( J:233609 )

• fail to elevate by E14.5 in both the anterior and posterior positions

skeleton

abnormal craniofacial bone morphology ( J:233609 )

• the two small bones that form from the hypochiasmatic cartilages flanking the presphenoid bone are absent

abnormal cranium morphology ( J:233609 )

• downward positioned cranium

abnormal cranial cartilage development ( J:233609 )

• at E15.5 progression of hypertrophic chondrocytes is slightly perturbed with cells appearing less hypertrophic compared to controls

• at E18.5 the defects in cartilage to bone progression becomes more evident

• at E18.5 the hypertrophic chondrocyte zone is elongated and matrix deposition is reduced

abnormal neurocranium morphology ( J:233609 )

• bones are more widely separated and appear less ossified overall

basioccipital bone hypoplasia ( J:233609 )

• hypoplasia correlates with extent of neural crest origin

• only slightly affected

basisphenoid bone hypoplasia ( J:233609 )

• hypoplasia correlates with extent of neural crest origin

• very hypoplastic

presphenoid bone hypoplasia ( J:233609 )

• hypoplasia correlates with extent of neural crest origin

• often absent

absent maxillary shelf ( J:233609 )

premaxilla hypoplasia ( J:233609 )

maxilla hypoplasia ( J:233609 )

absent palatine bone horizontal plate ( J:233609 )

domed cranium ( J:233609 )

palate bone hypoplasia ( J:233609 )

abnormal bone ossification ( J:233609 )

• reduced ossification in the bones of the calvaria and in some bones in the extremities including the phalanges and xiphoid process of the sternum

abnormal endochondral bone ossification ( J:233609 )

• reduced ossification of cranial bones at E15.5

failure of endochondral bone ossification ( J:233609 )

• hyoid and otic capsule fail to ossify

growth/size/body

absent maxillary shelf ( J:233609 )

absent palatine bone horizontal plate ( J:233609 )

palate bone hypoplasia ( J:233609 )

cleft palate ( J:233609 )

• fully penetrant

failure of palatal shelf elevation ( J:233609 )

• fail to elevate by E14.5 in both the anterior and posterior positions

abnormal nasal bridge morphology ( J:233609 )

• misshapen

hearing/vestibular/ear

abnormal otic capsule morphology ( J:233609 )

• absent

respiratory system

abnormal nasal bridge morphology ( J:233609 )

• misshapen