Phenotypes Associated with This Genotype

Genotype
MGI:3702323

• Allelic Composition: Msx1^tm1Bero/Msx1^tm1Bero
• Genetic Background: B6.129P2-Msx1^tm1Bero

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

mortality/aging

neonatal lethality, complete penetrance ( J:42035 )

• newborn homozygotes die within a few hours after birth

• Background Sensitivity: on a congenic C57BL/6J background, newborn homozygotes die more rapidly than homozygotes on mixed genetic background

craniofacial

abnormal cranium morphology ( J:42035 )

• at birth, homozygotes exhibit a rounded skull

absent alveolar process ( J:42035 )

• newborn homozygotes lack alveolar processes

absent incisors ( J:42035 )

• newborn homozygotes lack incisors

absent molars ( J:104286 )

• at P0, homozygotes lack mandibular molars

growth retardation of molars ( J:42035 )

• molars develop until E13.5 and reach the bud stage but fail to develop further

cleft chin ( J:42035 )

• at ~E13, mandibular development is slightly delayed, resulting in a cleft chin

absent malleus processus brevis ( J:42035 )

• newborn homozygotes lack the short process of the malleus, in the absence of other ear abnormalities

abnormal palate morphology ( J:42035 )

• at ~E13, the shape of the secondary palate is slightly altered

palatal shelf hypoplasia ( J:104286 )

cleft secondary palate ( J:42035 , J:104286 )

• all newborn homozygotes show a complete cleft of the secondary palate (J:42035)

short snout ( J:42035 )

• at birth, homozygotes display a shortened snout

shortened head ( J:42035 )

• at birth, homozygotes display a shortened head

embryo

abnormal roof plate morphology ( J:84975 )

• a normal roof plate fails to form in the caudal diencephalon as indicated by marker analysis

endocrine/exocrine glands

abnormal subcommissural organ morphology ( J:84975 )

• the subcommissural organ is reduced or absent in all mutants at E15.5

• the subcommissural organ is colonized by many nucleated cells instead of mainly neural fibers

respiratory system

respiratory distress ( J:42035 )

• newborns exhibit gasping respirations prior to death and contain air in their stomachs and intestines

• Background Sensitivity: on a congenic C57BL/6J background, newborn homozygotes contain less air in their stomachs than homozygotes on a mixed genetic background

nervous system

abnormal roof plate morphology ( J:84975 )

• a normal roof plate fails to form in the caudal diencephalon as indicated by marker analysis

abnormal brain morphology ( J:84975 )

• 1/3 of E11.5 mutants exhibit an indentation at the boundary between the diencephalon and mesencephalon

abnormal subcommissural organ morphology ( J:84975 )

• the subcommissural organ is reduced or absent in all mutants at E15.5

• the subcommissural organ is colonized by many nucleated cells instead of mainly neural fibers

hydrocephaly ( J:84975 )

• some mutants exhibit hydrocephalus at birth

dilated fourth ventricle ( J:84975 )

• seen in some mutants

abnormal brain commissure morphology ( J:84975 )

• posterior commissure is disorganized at E15.5

abnormal diencephalon morphology ( J:84975 )

• marker analysis indicates that dorsal midline cells are not maintained in prosomere 1 of the diencephalon

• cell death is reduced in the dorsal midline of the diencephalon of E10.5-E12.5 mutants

dilated third ventricle ( J:84975 )

• seen in some mutants

homeostasis/metabolism

cyanosis ( J:42035 )

• newborn homozygotes become rapidly cyanotic

skeleton

abnormal cranium morphology ( J:42035 )

• at birth, homozygotes exhibit a rounded skull

absent alveolar process ( J:42035 )

• newborn homozygotes lack alveolar processes

absent incisors ( J:42035 )

• newborn homozygotes lack incisors

absent molars ( J:104286 )

• at P0, homozygotes lack mandibular molars

growth retardation of molars ( J:42035 )

• molars develop until E13.5 and reach the bud stage but fail to develop further

cleft chin ( J:42035 )

• at ~E13, mandibular development is slightly delayed, resulting in a cleft chin

absent malleus processus brevis ( J:42035 )

• newborn homozygotes lack the short process of the malleus, in the absence of other ear abnormalities

digestive/alimentary system

abnormal palate morphology ( J:42035 )

• at ~E13, the shape of the secondary palate is slightly altered

palatal shelf hypoplasia ( J:104286 )

cleft secondary palate ( J:42035 , J:104286 )

• all newborn homozygotes show a complete cleft of the secondary palate (J:42035)

hearing/vestibular/ear

absent malleus processus brevis ( J:42035 )

• newborn homozygotes lack the short process of the malleus, in the absence of other ear abnormalities

limbs/digits/tail

limbs/digits/tail phenotype ( J:42035 )

N • surprisingly, homozygotes exhibit no limb defects

growth/size/body

absent alveolar process ( J:42035 )

• newborn homozygotes lack alveolar processes

absent incisors ( J:42035 )

• newborn homozygotes lack incisors

absent molars ( J:104286 )

• at P0, homozygotes lack mandibular molars

growth retardation of molars ( J:42035 )

• molars develop until E13.5 and reach the bud stage but fail to develop further

cleft chin ( J:42035 )

• at ~E13, mandibular development is slightly delayed, resulting in a cleft chin

abnormal palate morphology ( J:42035 )

• at ~E13, the shape of the secondary palate is slightly altered

palatal shelf hypoplasia ( J:104286 )

cleft secondary palate ( J:42035 , J:104286 )

• all newborn homozygotes show a complete cleft of the secondary palate (J:42035)

short snout ( J:42035 )

• at birth, homozygotes display a shortened snout

shortened head ( J:42035 )

• at birth, homozygotes display a shortened head

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tooth agenesis		DOID:0050591	OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:PS106600	J:42035