All Phenotypes Ndst3<tm1.1Grob> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ndst3^tm1.1Grob/Ndst3^tm1.1Grob	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N	MGI:3806249
cx2	Ndst1^tm1.1Grob/Ndst1^tm1.1Grob Ndst3^tm1.1Grob/Ndst3^tm1.1Grob	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N	MGI:3806250
cx3	Ndst2^tm1Lkj/Ndst2^tm1Lkj Ndst3^tm1.1Grob/Ndst3^tm1.1Grob	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N	MGI:3806252

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndst3^tm1.1Grob mutation (0 available); any Ndst3 mutation (66 available)

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

behavior/neurological

decreased anxiety-related response ( J:138557 )

• males exhibit decreased anxiety-related behaviors in an elevated plus maze due to moderate heparan-sulfate undersulfation

hematopoietic system

decreased lymphocyte cell number ( J:138557 )

• the relative number of circulating lymphocytes is reduced 35% compared to in wild-type mice

decreased CD8-positive, alpha-beta T cell number ( J:138557 )

• the relative number of CD8+ T cells in the spleen is reduced compared to in wild-type mice

homeostasis/metabolism

decreased circulating cholesterol level ( J:138557 )

• reduced 23%

decreased circulating HDL cholesterol level ( J:138557 )

• reduced 31%

immune system

decreased lymphocyte cell number ( J:138557 )

• the relative number of circulating lymphocytes is reduced 35% compared to in wild-type mice

decreased CD8-positive, alpha-beta T cell number ( J:138557 )

• the relative number of CD8+ T cells in the spleen is reduced compared to in wild-type mice

nervous system

nervous system phenotype ( J:138557 )

N	• despite expression in the brain and involvement in disaccharide sulfation, no cellular changes are observed in the brain

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

mortality/aging

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

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

neonatal lethality, complete penetrance ( J:138557 )

• mice do not survive birth

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

Allelic Composition	Ndst2^tm1Lkj/Ndst2^tm1Lkj Ndst3^tm1.1Grob/Ndst3^tm1.1Grob
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndst2^tm1Lkj mutation (0 available); any Ndst2 mutation (27 available)
Ndst3^tm1.1Grob mutation (0 available); any Ndst3 mutation (66 available)

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

embryo

embryo phenotype ( J:138557 )

N	• mice develop normally

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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