Phenotypes associated with this allele

• Allele Symbol: Ndst1^tm1.1Grob
• Allele Name: targeted mutation 1, Kay Grobe
• Allele ID: MGI:3589383
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ndst1^tm1.1Grob/Ndst1^tm1.1Grob	involves: 129S1/Sv * 129X1/SvJ	MGI:4943278
hm2	Ndst1^tm1.1Grob/Ndst1^tm1.1Grob	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3589446
ht3	Ndst1^tm1.1Grob/Ndst1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4421703
cx4	Ndst1^tm1.1Grob/Ndst1^+ Shh^tm1Chg/Shh^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3589447
cx5	Ndst1^tm1.1Grob/Ndst1^tm1.1Grob Shh^tm1Chg/Shh^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3589448
cx6	Ndst1^tm1.1Grob/Ndst1^tm1.1Grob Ndst3^tm1.1Grob/Ndst3^tm1.1Grob	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N	MGI:3806250

Genotype
MGI:4943278

hm1

• Allelic Composition: Ndst1^tm1.1Grob/Ndst1^tm1.1Grob
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

vision/eye

abnormal eye morphology ( J:130571 )

absent lacrimal glands ( J:130571 )

endocrine/exocrine glands

absent lacrimal glands ( J:130571 )

Genotype
MGI:3589446

hm2

• Allelic Composition: Ndst1^tm1.1Grob/Ndst1^tm1.1Grob
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:100425 )

craniofacial

abnormal cranium morphology ( J:100425 )

• at E13.5, 10 of 71 mutants lack a defined skull

absent neurocranium ( J:100425 )

• in severely affected mutants (10 of 71), the neurocranium is almost completely absent

absent facial bone ( J:100425 )

• in severely affected mutants (10 of 71), the viscerocranium is almost completely absent

absent mandible ( J:100425 )

• at E13.5, 10 of 71 mutants display agnathia

abnormal facial morphology ( J:100425 )

• at E13.5, 8 mildly affected mutants of 71 total mutants had underdeveloped frontonasal and mandibular/maxillary prominences and 10 severely affected mutants had partial lack of the frontonasal and mandibular/maxillary prominences

midline cleft upper lip ( J:100425 )

• at E13.5, 4 of 71 mutants had median cleft lip

nervous system

abnormal brain development ( J:100425 )

• the number of apoptotic cells in the neopallial cortex is significantly increased at E15.5 and reduced proliferation is seen in the lateral areas of the developing cortex at E17.5

abnormal forebrain development ( J:100425 )

• in mildly affected mutants (61 of 71), the forebrain displays patterning defects

abnormal brain commissure morphology ( J:100425 )

abnormal hippocampal commissure morphology ( J:100425 )

• in mildly affected mutants (61 of 71), the hippocampal commissure is hypoplastic or absent

abnormal anterior commissure morphology ( J:100425 )

• in mildly affected mutants (61 of 71), the anterior commissure is hypoplastic or absent

abnormal diencephalon morphology ( J:100425 )

• in severely affected mutants (10 of 71), the size of the diencephalon is extremely reduced

pituitary gland hypoplasia ( J:100425 )

• in mildly affected mutants (61 of 71), the pituitary is hypoplastic

abnormal telencephalon morphology ( J:100425 )

• in severely affected mutants (10 of 71), the size of the telencephalon is extremely reduced

absent olfactory bulb ( J:100425 )

• mildly affected mutants (61 of 71) typically lack the olfactory bulb

abnormal CNS glial cell morphology ( J:100425 )

• the number of glial cells in the brain is reduced at E18.5

vision/eye

iris coloboma ( J:100425 )

• at E13.5, 57 of 71 mutants display lack of eye lens or iris coloboma

aphakia ( J:100425 )

• at E13.5, 57 of 71 mutants display lack of eye lens or iris coloboma

microphthalmia ( J:100425 )

• at E13.5, 11 of 71 mutants display uni- or bilateral microphthalmia

anophthalmia ( J:100425 )

• at E13.5, 14 of 71 mutants lack eyes including 4 that otherwise had only mild developmental defects and 10 that had additional severe developmental defects

endocrine/exocrine glands

pituitary gland hypoplasia ( J:100425 )

• in mildly affected mutants (61 of 71), the pituitary is hypoplastic

skeleton

abnormal cranium morphology ( J:100425 )

• at E13.5, 10 of 71 mutants lack a defined skull

absent neurocranium ( J:100425 )

• in severely affected mutants (10 of 71), the neurocranium is almost completely absent

absent facial bone ( J:100425 )

• in severely affected mutants (10 of 71), the viscerocranium is almost completely absent

absent mandible ( J:100425 )

• at E13.5, 10 of 71 mutants display agnathia

delayed bone ossification ( J:100425 )

• in severely affected mutants (10 of 71), ossification of the digits and vertebrae is delayed; however, mesoderm-derived skeletal elements are otherwise normal

growth/size/body

abnormal facial morphology ( J:100425 )

• at E13.5, 8 mildly affected mutants of 71 total mutants had underdeveloped frontonasal and mandibular/maxillary prominences and 10 severely affected mutants had partial lack of the frontonasal and mandibular/maxillary prominences

midline cleft upper lip ( J:100425 )

• at E13.5, 4 of 71 mutants had median cleft lip

Genotype
MGI:4421703

ht3

• Allelic Composition: Ndst1^tm1.1Grob/Ndst1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

hematopoietic system

hematopoietic system phenotype ( J:155870 )

N • no evidence for anemia or thrombocytopenia

Genotype
MGI:3589447

cx4

• Allelic Composition: Ndst1^tm1.1Grob/Ndst1⁺; Shh^tm1Chg/Shh⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

craniofacial

mandible hypoplasia ( J:100425 )

• at E15.5, 4 of 8 mutants display hyploplastic lower jaws

frontonasal prominence hypoplasia ( J:100425 )

• at E15.5, 4 of 8 mutants display hypoplastic frontonasal or maxillary processes

abnormal maxillary prominence morphology ( J:100425 )

• at E15.5, 4 of 8 mutants display hypoplastic frontonasal or maxillary processes

absent tongue ( J:100425 )

• at E15.5, 4 of 8 mutants lack a tongue

absent olfactory epithelium ( J:100425 )

• at E15.5, 4 of 8 mutants lack olfactory epithelium

small snout ( J:100425 )

• surviving mutants generally have a smaller snout

vision/eye

aphakia ( J:100425 )

• at E15.5, 4 of 8 mutants display absent or hypoplastic eye lenses

abnormal eye development ( J:100425 )

• at E15.5, 4 of 8 mutants display severe eye developmental defects

microphthalmia ( J:100425 )

• surviving mutants generally have smaller eyes

digestive/alimentary system

absent tongue ( J:100425 )

• at E15.5, 4 of 8 mutants lack a tongue

taste/olfaction

absent olfactory epithelium ( J:100425 )

• at E15.5, 4 of 8 mutants lack olfactory epithelium

skeleton

mandible hypoplasia ( J:100425 )

• at E15.5, 4 of 8 mutants display hyploplastic lower jaws

respiratory system

absent olfactory epithelium ( J:100425 )

• at E15.5, 4 of 8 mutants lack olfactory epithelium

growth/size/body

absent tongue ( J:100425 )

• at E15.5, 4 of 8 mutants lack a tongue

absent olfactory epithelium ( J:100425 )

• at E15.5, 4 of 8 mutants lack olfactory epithelium

small snout ( J:100425 )

• surviving mutants generally have a smaller snout

Genotype
MGI:3589448

cx5

• Allelic Composition: Ndst1^tm1.1Grob/Ndst1^tm1.1Grob; Shh^tm1Chg/Shh⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

prenatal lethality ( J:100425 )

• 3-times fewer than expected mutants are produced

craniofacial

frontonasal prominence hypoplasia ( J:100425 )

• 4 of 5 mutants display severely hypoplastic frontonasal prominences similar to defects seen in severely affected Ndst1^tm1.1Grob single homozygotes

abnormal maxillary prominence morphology ( J:100425 )

• 4 of 5 mutants display severely hypoplastic maxillary prominences similar to defects seen in severely affected Ndst1^tm1.1Grob single homozygotes

nervous system

abnormal midbrain morphology ( J:100425 )

• all mutants display collapse of the midbrain

abnormal forebrain morphology ( J:100425 )

• all mutants display collapse of the forebrain

Genotype
MGI:3806250

cx6

• Allelic Composition: Ndst1^tm1.1Grob/Ndst1^tm1.1Grob; Ndst3^tm1.1Grob/Ndst3^tm1.1Grob
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:138557 )

• mice do not survive birth

lethality throughout fetal growth and development, incomplete penetrance ( J:138557 )

• fewer than expected mice are present between E13.5 and E18.5

craniofacial

abnormal viscerocranium morphology ( J:138557 )

• mice exhibit more frequent and severe frontonasal bone defects than in Ndst1^tm1.1Grob homozygotes

absent mandible ( J:138557 )

• in 39% of mice between E13.5 and E18.5

maxillary shelf hypoplasia ( J:138557 )

• mice exhibit an extremely underdeveloped maxillary shelf

frontonasal prominence hypoplasia ( J:138557 )

• 61% of mice exhibit hypoplastic frontonasal prominences compared to 14% of Ndst1^tm1.1Grob homozygotes

abnormal maxillary prominence morphology ( J:138557 )

• 61% of mice hypoplastic maxillary prominences compared to 14% of Ndst1^tm1.1Grob homozygotes

• at E13.5, apoptosis in the maxillary prominences is increased

abnormal face development ( J:138557 )

• facial primordia are severely underdeveloped at birth

facial cleft ( J:138557 )

• in 39% of mice between E13.5 and E18.5

nervous system

increased hindbrain apoptosis ( J:138557 )

• apoptosis in the hindbrain is increased

abnormal brain morphology ( J:138557 )

• mice exhibit more frequent and severe brain abnormalities than in Ndst1^tm1.1Grob homozygotes

holoprosencephaly ( J:138557 )

• between E13.5 and E18.5, 39% of mice exhibit holoprosencephaly or hypoplastic forebrain, severe facial clefting, absent eyes and absent lower jaw

abnormal forebrain morphology ( J:138557 )

• the forebrain forms one undivided holosphere unlike in wild-type mice

vision/eye

abnormal eye morphology ( J:138557 )

• 61% of mice exhibit eye defects compared to 14% of Ndst1^tm1.1Grob homozygotes

microphthalmia ( J:138557 )

• eyes are mostly absent

anophthalmia ( J:138557 )

• in 39% of mice between E13.5 and E18.5

cellular

increased hindbrain apoptosis ( J:138557 )

• apoptosis in the hindbrain is increased

decreased fibroblast cell migration ( J:138557 )

• migration of fibroblast cells is moderately reduced compared to that of wild-type fibroblast

skeleton

abnormal viscerocranium morphology ( J:138557 )

• mice exhibit more frequent and severe frontonasal bone defects than in Ndst1^tm1.1Grob homozygotes

absent mandible ( J:138557 )

• in 39% of mice between E13.5 and E18.5

maxillary shelf hypoplasia ( J:138557 )

• mice exhibit an extremely underdeveloped maxillary shelf

digestive/alimentary system

maxillary shelf hypoplasia ( J:138557 )

• mice exhibit an extremely underdeveloped maxillary shelf

growth/size/body

maxillary shelf hypoplasia ( J:138557 )

• mice exhibit an extremely underdeveloped maxillary shelf

abnormal face development ( J:138557 )

• facial primordia are severely underdeveloped at birth

facial cleft ( J:138557 )

• in 39% of mice between E13.5 and E18.5