Phenotypes Associated with This Genotype

Genotype
MGI:5698674

• Allelic Composition: Mau2^tm1.1Hpt/Mau2^tm1.1Hpt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

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

vision/eye

eyelids open at birth ( J:213338 )

• newborn mice display open eyelids

growth/size/body

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

abnormal upper lip morphology ( J:213338 )

• a mild size reduction of the upper lip is first seen at E13.5

upturned snout ( J:213338 )

• an up-turned nose is first seen at E13.5

lowered ear position ( J:213338 )

• newborn mice have low-set ears

embryo

decreased cranial neural crest cell proliferation ( J:213338 )

• proliferation of neural crest cells is reduced as early as E10.5; however, these cells continue to expand and are capable of differentiating into cartilage and bone, esp. in the distal region of the maxilla and mandible, respectively

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

craniofacial

abnormal cranium morphology ( J:213338 )

• all neural crest cell-derived skull components are severely affected

abnormal jaw morphology ( J:213338 )

• all neural crest cell-derived jaw components are severely affected

small mandible ( J:213338 )

• a mild size reduction of the lower jaw is first seen at E13.5

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is only 49% of that in wild-type controls, i.e. significantly smaller than that of mice that are double homozygous for both Nipbl^tm1.1Hpt and Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)

abnormal craniofacial development ( J:213338 )

• surprisingly, newborn mice exhibit a more pronounced craniofacial phenotype relative to not only mice that are singly homozygous for Nipbl^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth, but also to mice that are double homozygous for both Nipbl^tm1.1Hpt and Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

abnormal upper lip morphology ( J:213338 )

• a mild size reduction of the upper lip is first seen at E13.5

upturned snout ( J:213338 )

• an up-turned nose is first seen at E13.5

lowered ear position ( J:213338 )

• newborn mice have low-set ears

skeleton

abnormal cranium morphology ( J:213338 )

• all neural crest cell-derived skull components are severely affected

abnormal jaw morphology ( J:213338 )

• all neural crest cell-derived jaw components are severely affected

small mandible ( J:213338 )

• a mild size reduction of the lower jaw is first seen at E13.5

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is only 49% of that in wild-type controls, i.e. significantly smaller than that of mice that are double homozygous for both Nipbl^tm1.1Hpt and Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)

cellular

decreased cranial neural crest cell proliferation ( J:213338 )

• proliferation of neural crest cells is reduced as early as E10.5; however, these cells continue to expand and are capable of differentiating into cartilage and bone, esp. in the distal region of the maxilla and mandible, respectively

hearing/vestibular/ear

lowered ear position ( J:213338 )

• newborn mice have low-set ears