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Phenotypes Associated with This Genotype
Genotype
MGI:5698653
Allelic
Composition
Nipbltm1.1Hpt/Nipbltm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (25 available)
Nipbltm1.1Hpt mutation (0 available); any Nipbl mutation (124 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• newborn mice display open eyelids

growth/size/body
• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%
• however, the number of apoptotic cells is not significantly increased at E12.5
• newborn mice exhibit severe facial hypoplasia
• a mild size reduction of the upper lip is first seen at E13.5
• an up-turned lip is first seen at E13.5
• an up-turned nose is first seen at E13.5
• newborn mice have low-set ears

embryo
• 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
• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%
• however, the number of apoptotic cells is not significantly increased at E12.5

craniofacial
• all neural crest cell-derived skull components are severely affected
• all neural crest cell-derived jaw components are severely affected
• a mild size reduction of the lower jaw is first seen at E13.5
• in newborn mice, the length of the mandible is 73% of that in wild-type controls
• at E13.5
• newborn mice exhibit severe defects in craniofacial development
• surprisingly, no gross abnormalities are noted up to E12.5
• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%
• however, the number of apoptotic cells is not significantly increased at E12.5
• newborn mice exhibit severe facial hypoplasia
• a mild size reduction of the upper lip is first seen at E13.5
• an up-turned lip is first seen at E13.5
• an up-turned nose is first seen at E13.5
• newborn mice have low-set ears

skeleton
• all neural crest cell-derived skull components are severely affected
• all neural crest cell-derived jaw components are severely affected
• a mild size reduction of the lower jaw is first seen at E13.5
• in newborn mice, the length of the mandible is 73% of that in wild-type controls
• at E13.5

cellular
• 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
• newborn mice have low-set ears


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory