Phenotypes associated with this allele

• Allele Symbol: Nipbl^tm1.1Hpt
• Allele Name: targeted mutation 1.1, Heiko Peters
• Allele ID: MGI:5638625
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5698643
cn2	Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL	MGI:5698653
cn3	Mau2^tm1.1Hpt/Mau2^tm1.1Hpt Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL	MGI:5698685
cn4	Mau2^tm1.1Hpt/Mau2^tm1.1Hpt Nipbl^tm1.1Hpt/Nipbl^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL	MGI:5698689

Genotype
MGI:5698643

hm1

• Allelic Composition: Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

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

normal phenotype

no abnormal phenotype detected ( J:213338 )

• homozygotes are viable and fertile and show no over phenotypic abnormalities

Genotype
MGI:5698653

cn2

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

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%

• however, the number of apoptotic cells is not significantly increased at E12.5

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

eclabion ( J:213338 )

• an up-turned 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%

• however, the number of apoptotic cells is not significantly increased at E12.5

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

mandible hypoplasia ( J:213338 )

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 73% of that in wild-type controls

maxilla hypoplasia ( J:213338 )

• at E13.5

abnormal craniofacial development ( J:213338 )

• newborn mice exhibit severe defects in craniofacial development

• surprisingly, no gross abnormalities are noted up to E12.5

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%

• however, the number of apoptotic cells is not significantly increased at E12.5

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

eclabion ( J:213338 )

• an up-turned 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

mandible hypoplasia ( J:213338 )

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 73% of that in wild-type controls

maxilla hypoplasia ( J:213338 )

• at E13.5

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

Genotype
MGI:5698685

cn3

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

vision/eye

eyelids open at birth ( J:213338 )

• newborn mice display open eyelids

growth/size/body

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

lowered ear position ( J:213338 )

• newborn mice have low-set ears

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

short mandible ( J:213338 )

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

abnormal craniofacial development ( J:213338 )

• surprisingly, newborn mice exhibit a less pronounced craniofacial phenotype relative to mice that are singly homozygous for Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

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

short mandible ( J:213338 )

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

hearing/vestibular/ear

lowered ear position ( J:213338 )

• newborn mice have low-set ears

Genotype
MGI:5698689

cn4

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

craniofacial

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 62% of that in wild-type controls, i.e. intermediate between that of mice that are singly homozygous for Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls) and 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)

skeleton

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 62% of that in wild-type controls, i.e. intermediate between that of mice that are singly homozygous for Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls) and 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)