Analysis Tools
vision/eye
endocrine/exocrine glands
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Allele Symbol Allele Name Allele ID |
Ndst1tm1.1Grob targeted mutation 1, Kay Grobe MGI:3589383 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E13.5, 10 of 71 mutants lack a defined skull
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• in severely affected mutants (10 of 71), the neurocranium is almost completely absent
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• in severely affected mutants (10 of 71), the viscerocranium is almost completely absent
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• at E13.5, 10 of 71 mutants display agnathia
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• 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
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• at E13.5, 4 of 71 mutants had median cleft lip
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• 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
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• in mildly affected mutants (61 of 71), the forebrain displays patterning defects
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• in mildly affected mutants (61 of 71), the hippocampal commissure is hypoplastic or absent
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• in mildly affected mutants (61 of 71), the anterior commissure is hypoplastic or absent
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• in severely affected mutants (10 of 71), the size of the diencephalon is extremely reduced
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• in mildly affected mutants (61 of 71), the pituitary is hypoplastic
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• in severely affected mutants (10 of 71), the size of the telencephalon is extremely reduced
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• mildly affected mutants (61 of 71) typically lack the olfactory bulb
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• the number of glial cells in the brain is reduced at E18.5
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• at E13.5, 57 of 71 mutants display lack of eye lens or iris coloboma
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• at E13.5, 11 of 71 mutants display uni- or bilateral microphthalmia
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• 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
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• in mildly affected mutants (61 of 71), the pituitary is hypoplastic
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• at E13.5, 10 of 71 mutants lack a defined skull
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• in severely affected mutants (10 of 71), the neurocranium is almost completely absent
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• in severely affected mutants (10 of 71), the viscerocranium is almost completely absent
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• at E13.5, 10 of 71 mutants display agnathia
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• in severely affected mutants (10 of 71), ossification of the digits and vertebrae is delayed; however, mesoderm-derived skeletal elements are otherwise normal
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• 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
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• at E13.5, 4 of 71 mutants had median cleft lip
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no evidence for anemia or thrombocytopenia
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E15.5, 4 of 8 mutants display hyploplastic lower jaws
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• at E15.5, 4 of 8 mutants display hypoplastic frontonasal or maxillary processes
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• at E15.5, 4 of 8 mutants display hypoplastic frontonasal or maxillary processes
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• at E15.5, 4 of 8 mutants lack a tongue
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• at E15.5, 4 of 8 mutants lack olfactory epithelium
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• surviving mutants generally have a smaller snout
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• at E15.5, 4 of 8 mutants display severe eye developmental defects
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• surviving mutants generally have smaller eyes
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• at E15.5, 4 of 8 mutants lack a tongue
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• at E15.5, 4 of 8 mutants lack olfactory epithelium
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• at E15.5, 4 of 8 mutants display hyploplastic lower jaws
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• at E15.5, 4 of 8 mutants lack olfactory epithelium
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• at E15.5, 4 of 8 mutants lack a tongue
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• at E15.5, 4 of 8 mutants lack olfactory epithelium
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• surviving mutants generally have a smaller snout
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 3-times fewer than expected mutants are produced
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• 4 of 5 mutants display severely hypoplastic frontonasal prominences similar to defects seen in severely affected Ndst1tm1.1Grob single homozygotes
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• 4 of 5 mutants display severely hypoplastic maxillary prominences similar to defects seen in severely affected Ndst1tm1.1Grob single homozygotes
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• all mutants display collapse of the midbrain
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• all mutants display collapse of the forebrain
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fewer than expected mice are present between E13.5 and E18.5
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• mice do not survive birth
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• mice exhibit more frequent and severe frontonasal bone defects than in Ndst1tm1.1Grob homozygotes
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• in 39% of mice between E13.5 and E18.5
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• mice exhibit an extremely underdeveloped maxillary shelf
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• 61% of mice exhibit hypoplastic frontonasal prominences compared to 14% of Ndst1tm1.1Grob homozygotes
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• 61% of mice hypoplastic maxillary prominences compared to 14% of Ndst1tm1.1Grob homozygotes
• at E13.5, apoptosis in the maxillary prominences is increased
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• facial primordia are severely underdeveloped at birth
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• in 39% of mice between E13.5 and E18.5
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• apoptosis in the hindbrain is increased
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• mice exhibit more frequent and severe brain abnormalities than in Ndst1tm1.1Grob homozygotes
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• between E13.5 and E18.5, 39% of mice exhibit holoprosencephaly or hypoplastic forebrain, severe facial clefting, absent eyes and absent lower jaw
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• the forebrain forms one undivided holosphere unlike in wild-type mice
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• 61% of mice exhibit eye defects compared to 14% of Ndst1tm1.1Grob homozygotes
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• eyes are mostly absent
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• in 39% of mice between E13.5 and E18.5
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• apoptosis in the hindbrain is increased
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• migration of fibroblast cells is moderately reduced compared to that of wild-type fibroblast
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• mice exhibit more frequent and severe frontonasal bone defects than in Ndst1tm1.1Grob homozygotes
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• in 39% of mice between E13.5 and E18.5
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• mice exhibit an extremely underdeveloped maxillary shelf
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• mice exhibit an extremely underdeveloped maxillary shelf
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• mice exhibit an extremely underdeveloped maxillary shelf
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• facial primordia are severely underdeveloped at birth
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• in 39% of mice between E13.5 and E18.5
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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 04/23/2024 MGI 6.23 |
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