Phenotypes associated with this allele

• Allele Symbol: Msx2^tm1Bero
• Allele Name: targeted mutation 1, Benoit Robert
• Allele ID: MGI:2676049
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Yvla Tagln^tm2(cre)Yec/Tagln^+	involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * NMRI	MGI:5297709
cx2	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero	involves: 129 * 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:2676082
cx3	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero	involves: 129/Sv * 129P2/OlaHsd	MGI:5613192
cx4	Msx1^tm2.1(cre/ERT2)Bero/Msx1^tm2.1(cre/ERT2)Bero Msx2^tm1Bero/Msx2^tm1Bero	involves: 129/Sv * 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5473569
cx5	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Yvla	involves: 129/Sv * BALB/c * C57BL/6 * SJL	MGI:3797245
cx6	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero	involves: 129/Sv * C57BL/6 * NMRI	MGI:3582224

Genotype
MGI:5297709

cn1

• Allelic Composition: Msx1^tm1Bero/Msx1^tm1Bero; Msx2^tm1Bero/Msx2^tm1Yvla; Tagln^tm2(cre)Yec/Tagln⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * NMRI

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

cardiovascular system

abnormal artery morphology ( J:173525 )

• superficial temporal artery is more branched than in controls

abnormal carotid artery morphology ( J:173525 )

• at E11.5, carotid artery (CA) overbranching is observed

abnormal vertebral artery morphology ( J:173525 )

• vertebral artery (VA) caliber is increased relative to controls

vascular smooth muscle hypoplasia ( J:173525 )

• number of smooth muscle actin-positive cells in CA is half that observed in controls

intracranial aneurysm ( J:173525 )

• in the head, aneurysms are frequently observed

intracranial hemorrhage ( J:173525 )

• in the head, hemorrhages are frequently observed

muscle

vascular smooth muscle hypoplasia ( J:173525 )

• number of smooth muscle actin-positive cells in CA is half that observed in controls

nervous system

intracranial hemorrhage ( J:173525 )

• in the head, hemorrhages are frequently observed

Genotype
MGI:2676082

cx2

• Allelic Composition: Msx1^tm1Bero/Msx1^tm1Bero; Msx2^tm1Bero/Msx2^tm1Bero
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6 * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:84975 )

• resorption observed at E10.5 and E11.5, incomplete penetrance

embryo

decreased embryo size ( J:84975 )

• small embryo size at E10.5-E11.5

spina bifida ( J:84975 )

• seen in some embryos

growth/size/body

decreased embryo size ( J:84975 )

• small embryo size at E10.5-E11.5

nervous system

spina bifida ( J:84975 )

• seen in some embryos

decreased brain size ( J:84975 )

• small and abnormal brain

exencephaly ( J:84975 )

• observed in some cases, encompassing the posterior mesencephalon and the rhombencephalon

Genotype
MGI:5613192

cx3

• Allelic Composition: Msx1^tm1Bero/Msx1^tm1Bero; Msx2^tm1Bero/Msx2^tm1Bero
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd

growth/size/body

decreased embryo size ( J:208848 )

• at E9.5 - E11.5

embryo

decreased embryo size ( J:208848 )

• at E9.5 - E11.5

abnormal neural tube morphology ( J:208848 )

• expression analysis indicates that the dorsal progenitor pool 1 cells are not specified and that the proportion of dorsal progenitor 3 cells is increased at E10.5

nervous system

abnormal neural tube morphology ( J:208848 )

• expression analysis indicates that the dorsal progenitor pool 1 cells are not specified and that the proportion of dorsal progenitor 3 cells is increased at E10.5

decreased spinal cord size ( J:208848 )

• at E9.5 - E11.5

Genotype
MGI:5473569

cx4

• Allelic Composition: Msx1^{tm2.1(cre/ERT2)Bero}/Msx1^{tm2.1(cre/ERT2)Bero}; Msx2^tm1Bero/Msx2^tm1Bero
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129S2/SvPas * C57BL/6

mortality/aging

neonatal lethality ( J:194129 )

• animals die during first day following birth likely from denutrition, dehydration or hypothermia

craniofacial

absent teeth ( J:194129 )

• general tooth agenesis observed at autopsy

absent malleus processus brevis ( J:194129 )

• observed at autopsy

cleft secondary palate ( J:194129 )

• observed at autopsy

skeleton

absent teeth ( J:194129 )

• general tooth agenesis observed at autopsy

absent malleus processus brevis ( J:194129 )

• observed at autopsy

digestive/alimentary system

cleft secondary palate ( J:194129 )

• observed at autopsy

hearing/vestibular/ear

absent malleus processus brevis ( J:194129 )

• observed at autopsy

behavior/neurological

absent gastric milk in neonates ( J:194129 )

• newborns have no milk in their stomach, suggesting denutrition/dehydration might be cause of lethality

growth/size/body

absent teeth ( J:194129 )

• general tooth agenesis observed at autopsy

cleft secondary palate ( J:194129 )

• observed at autopsy

Genotype
MGI:3797245

cx5

• Allelic Composition: Msx1^tm1Bero/Msx1^tm1Bero; Msx2^tm1Bero/Msx2^tm1Yvla
• Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SJL

mortality/aging

perinatal lethality ( J:136241 )

craniofacial

abnormal craniofacial development ( J:136241 )

cleft palate ( J:136241 )

short snout ( J:136241 )

digestive/alimentary system

cleft palate ( J:136241 )

growth/size/body

cleft palate ( J:136241 )

short snout ( J:136241 )

Genotype
MGI:3582224

cx6

• Allelic Composition: Msx1^tm1Bero/Msx1^tm1Bero; Msx2^tm1Bero/Msx2^tm1Bero
• Genetic Background: involves: 129/Sv * C57BL/6 * NMRI

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:98917 )

• double homozygotes do not survive beyond E15

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:98917 )

• maturation of the apical ectodermal ridge is impaired and regression is delayed; however initiation is normal

• at E10.2 and E11.5 the apical ectodermal ridge appears shorter and more diffuse

• at E12.5 the apical ectodermal ridge remains continuos along the entire apex of the limb and appears thicker than normal

small limb buds ( J:98917 )

• limb bud size is reduced by about 1/3 at E10.5 to E11.5 even in somite-matched embryos

• the mesenchymal anterior domain of the limb bud is not maintained after E10.5 and all of the mesenchyme in the limb bud assumes a posterior identity

• in the anterior portion of the limb bud the normal dorsal ventral boundary is not established at E10.5

abnormal carpal bone morphology ( J:98917 )

• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent

oligodactyly ( J:98917 )

• at E14.5 mutants only have 1 phalange while control embryos have 2

• the missing digit is always the anterior most one

polydactyly ( J:98917 )

• 2 out of 18 mutant forelimbs had 6 digits

interdigital webbing ( J:98917 )

• at E14.5 interdigital webbing is retained

abnormal tarsal bone morphology ( J:98917 )

• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent

short limbs ( J:98917 )

• at E14.5 the 3 segments of the limb are about 3/4 of the normal size

• general truncation of the anterior parts of the limbs with systematic loss of the anterior part of the zeugopod

embryo

abnormal apical ectodermal ridge morphology ( J:98917 )

• maturation of the apical ectodermal ridge is impaired and regression is delayed; however initiation is normal

• at E10.2 and E11.5 the apical ectodermal ridge appears shorter and more diffuse

• at E12.5 the apical ectodermal ridge remains continuos along the entire apex of the limb and appears thicker than normal

small limb buds ( J:98917 )

• limb bud size is reduced by about 1/3 at E10.5 to E11.5 even in somite-matched embryos

• the mesenchymal anterior domain of the limb bud is not maintained after E10.5 and all of the mesenchyme in the limb bud assumes a posterior identity

• in the anterior portion of the limb bud the normal dorsal ventral boundary is not established at E10.5

skeleton

abnormal carpal bone morphology ( J:98917 )

• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent

abnormal tarsal bone morphology ( J:98917 )

• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent

small scapula ( J:98917 )

• at E14.5 the scapula is about 3/4 of the normal size

abnormal pelvic girdle bone morphology ( J:98917 )

• at E14.5 the pelvic girdle is about 3/4 of the normal size

absent pubis ( J:98917 )

• mutants lack the pubis bone corresponding to the anterior part of the pelvis